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Entry
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- #278000 - CHOLESTERYL ESTER STORAGE DISEASE; CESD
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- OMIM
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<p>
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<span class="h4">#278000</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/278000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS278000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02044&isoform_id=02044_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHOLESTERYL ESTER STORAGE DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20326&Typ=Pat" title="Lysosomal acid lipase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Lysosomal acid lipase defi… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11067&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Wolman disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11068&Typ=Pat" title="Cholesteryl ester storage disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cholesteryl ester storage … </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK305870/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=278000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275761" title="Lysosomal acid lipase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Lysosomal acid lipase defi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Wolman disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75234" title="Cholesteryl ester storage disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cholesteryl ester storage …</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/eefb390b-07eb-48c3-a546-d3e372ef43f3/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14502" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/278000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14502" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:278000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 57218003<br />
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<strong>ORPHA:</strong> 275761, 75233, 75234<br />
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<strong>DO:</strong> 14502<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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278000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHOLESTERYL ESTER STORAGE DISEASE; CESD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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LYSOSOMAL ACID LIPASE DEFICIENCY, PARTIAL<br />
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LIPA DEFICIENCY, PARTIAL<br />
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LAL DEFICIENCY, PARTIAL<br />
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CHOLESTEROL ESTER HYDROLASE DEFICIENCY, PARTIAL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/10/379?start=-3&limit=10&highlight=379">
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10q23.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cholesteryl ester storage disease
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/278000"> 278000 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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LIPA
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613497"> 613497 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/278000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS278000" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/278000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/278000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
|
</div>
|
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|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Myocardial infarction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926063</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coronary artery disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414024009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414024009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443502000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443502000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53741008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53741008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/414.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">414.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956346</a>, <a href="https://bioportal.bioontology.org/search?q=C0010054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010054</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001677</a>]</span><br /> -
|
|
Atherosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38716007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38716007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">440</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004153</a>, <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002635</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Liver fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br /> -
|
|
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
|
|
Liver failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59927004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K72.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span><br /> -
|
|
Infiltration by lipid-filled Kupffer cells, microvesicular steatosis of hepatocytes, needle-shaped cholesterol ester crystals seen on liver biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829511</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br /> -
|
|
Spleen foamy lipid droplets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830783</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cholesterol ester and triglyceride accumulation seen on small intestine biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829512</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
</div>
|
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|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adrenal calcification (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12286000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12286000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271750</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010512</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010512</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Lysosomal acid lipase (LAL) deficiency in fibroblasts, leukocytes, and amniocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829513</a>]</span><br /> -
|
|
Increased total cholesterol <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br /> -
|
|
Increased LDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003141</a>]</span><br /> -
|
|
Decreased HDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span><br /> -
|
|
Increased triglycerides <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302870006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302870006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166848004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166848004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020557</a>, <a href="https://bioportal.bioontology.org/search?q=C0813230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span><br /> -
|
|
Elevated serum transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438717</a>, <a href="https://bioportal.bioontology.org/search?q=C0859350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0859350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Benign clinical presentation that may not be detected until adulthood<br /> -
|
|
Highly variable clinical presentation due to range of residual LAL activity<br /> -
|
|
Age of onset, childhood-adulthood<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the lysosomal acid lipase gene (LIPA, <a href="/entry/613497#0001">613497.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Lysosomal acid lipase deficiency
|
|
- <a href="/phenotypicSeries/PS278000">PS278000</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/379?start=-3&limit=10&highlight=379"> 10q23.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620151"> Wolman disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620151"> 620151 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because cholesteryl ester storage disease (CESD) is caused by homozygous or compound heterozygous mutation in the LIPA gene (<a href="/entry/613497">613497</a>) on chromosome 10q23.</p><p>Wolman disease (WOLD; <a href="/entry/620151">620151</a>), a more severe lysosomal acid lipase deficiency, is also caused by mutation in the LIPA gene.</p>
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<p>Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD; <a href="/entry/620151">620151</a>) and cholesteryl ester storage disease (CESD). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by <a href="#14" class="mim-tip-reference" title="Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A. <strong>Enzyme therapy for lysosomal acid lipase deficiency in the mouse.</strong> Hum. Molec. Genet. 10: 1639-1648, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11487567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11487567</a>] [<a href="https://doi.org/10.1093/hmg/10.16.1639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11487567">Du et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11487567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Schiff, L., Schubert, W. K., McAdams, A. J., Spiegel, E. L., O'Donnell, J. F. <strong>Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects.</strong> Am. J. Med. 44: 538-546, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5642714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5642714</a>] [<a href="https://doi.org/10.1016/0002-9343(68)90054-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5642714">Schiff et al. (1968)</a> described cholesterol ester storage disease of the liver in teenage brother and sister whose livers were orange in color. Four younger sibs showed milder changes. The parents were not known to be related. Tissue accumulation of cholesterol esters and triglycerides occurs in both this disease and Wolman disease. The chemical and enzymatic abnormalities are similar. The marked difference in phenotypic expression is comparable to the difference between Hurler (<a href="/entry/607014">607014</a>) and Scheie (<a href="/entry/607016">607016</a>) syndromes; see also <a href="/entry/607015">607015</a>, and the classic and visceral forms, A (<a href="/entry/257200">257200</a>) and B (<a href="/entry/607616">607616</a>), respectively, of Niemann-Pick disease. In contrast to Wolman disease, cholesterol ester storage disease is relatively mild; however, in 1 sibship 3 sisters died of acute hepatic failure at the ages of 7, 9, and 17 years (<a href="#4" class="mim-tip-reference" title="Beaudet, A. L., Ferry, G. D., Nichols, B. L., Jr., Rosenberg, H. S. <strong>Cholesterol ester storage disease: clinical, biochemical, and pathological studies.</strong> J. Pediat. 90: 910-914, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/859064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">859064</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80557-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="859064">Beaudet et al., 1977</a>). Accumulation of neutral fats and cholesterol esters in the arteries predispose affected persons to atherosclerosis. Hypercholesterolemia is common. Massive hepatomegaly and hepatic fibrosis may lead to esophageal varices. Lysosomal acid lipase A, the enzyme deficient in both Wolman disease and cholesterol ester storage disease, is one of 3 acid lipase isozymes. See lipase B (LIPB; <a href="/entry/247980">247980</a>) and C (LIPC; <a href="/entry/151670">151670</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5642714+859064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Young, E. P., Patrick, A. D. <strong>Deficiency of acid esterase activity in Wolman's disease.</strong> Arch. Dis. Child. 45: 664-668, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5477680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5477680</a>] [<a href="https://doi.org/10.1136/adc.45.243.664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5477680">Young and Patrick (1970)</a> commented on the existence of cases with the same biochemical and histologic changes as in the acute infantile form (Wolman disease) but with later onset and a much less fulminant course. One of their cases was alive and well at age 8 years, showing no clinical abnormality other than moderate hepatomegaly. The same enzyme is deficient in all these cases. Hence, they suggested the term 'acid lipase deficiency' for the whole group, with Wolman disease as the designation for the acute infantile form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5477680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Besley, G. T. N., Broadhead, D. M., Lawlor, E., McCann, S. R., Dempsey, J. D., Drury, M. I., Crowe, J. <strong>Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis.</strong> Clin. Genet. 26: 195-203, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6478639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6478639</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb04367.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6478639">Besley et al. (1984)</a> reported the first patient with CESD identified in Ireland. Then aged 39, with hepatomegaly and sea-blue histiocytes in the bone marrow, the patient had suffered from recurring periods of general malaise and diarrhea since age 21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6478639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Cagle, P. T., Ferry, G. D., Beaudet, A. L., Hawkins, E. P. <strong>Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD).</strong> Am. J. Med. Genet. 24: 711-722, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3740103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3740103</a>] [<a href="https://doi.org/10.1002/ajmg.1320240416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3740103">Cagle et al. (1986)</a> concluded that patients with CESD are at risk for the development of pulmonary hypertension. Such was recognized in a 15-year-old patient who died at age 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3740103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Bychkov, I. O., Kamenets, E. A., Filatova, A. Y., Skoblov, M. Y., Mikhaylova, S. V., Strokova, T. V., Gundobina, O. S., Zakharova, E. Y. <strong>The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.</strong> Molec. Genet. Metab. 127: 212-215, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31230978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31230978</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31230978">Bychkov et al. (2019)</a> reported a patient who presented at 10 months of age with hepatosplenomegaly. Abdominal ultrasound demonstrated hepatomegaly and increased liver echogenicity. Laboratory testing showed elevated liver transaminases, total cholesterol, and triglycerides. Scleral icterus and palmar erythema were seen when the patient was 2 years of age. Lysosomal acid lipase activity in leukocytes was found to be low. At age 13 years, the patient was hospitalized due to thrombocytopenia, leukopenia, anemia, hepatosplenomegaly, and signs of portal hypertension. She was diagnosed with cirrhosis, and she developed esophageal varices. Starting at age 16, she received enzyme replacement therapy with sebelipase alfa. At age 20, she had improved liver function, decreased portal hypertension, decrease in varices, improvement of hypersplenism, and resolved thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31230978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Burton, B. K., Reed, S. P. <strong>Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.</strong> Am. J. Hum. Genet. 33: 203-208, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782865</a>]" pmid="6782865">Burton and Reed (1981)</a> demonstrated material crossreacting with antibodies to acid lipase in fibroblasts of 3 patients with Wolman disease and 3 with cholesterol ester storage disease. Quantitation of the CRM showed normal levels in both cell types. Enzyme activity was reduced about 200-fold in Wolman disease fibroblasts and 50- to 100-fold in cholesterol ester storage disease cells. Cholesterol ester storage disease was proposed to be a disorder allelic to Wolman disease (<a href="#3" class="mim-tip-reference" title="Assmann, G., Fredrickson, D. S. <strong>Acid lipase deficiency (Wolman's disease and cholesteryl ester storage disease). In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): Metabolic Basis of Inherited Disease. (5th ed.)</strong> New York: McGraw-Hill (pub.) 1983. Pp. 803-819."None>Assmann and Fredrickson, 1983</a>). Supporting the allelic nature of Wolman and cholesteryl ester storage diseases is the occurrence of possible genetic compounds, i.e., cases of intermediate severity (<a href="#20" class="mim-tip-reference" title="Schmitz, G., Assmann, G. <strong>Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)</strong> New York: McGraw-Hill (pub.) 1989. Pp. 1623-1644."None>Schmitz and Assmann, 1989</a>). In both Wolman disease and cholesteryl ester storage disease, <a href="#10" class="mim-tip-reference" title="Chatterjee, S., Castiglione, E., Kwiterovich, P. O., Jr., Hoeg, J. M., Brewer, H. B. <strong>Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.</strong> Clin. Genet. 29: 360-368, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3742843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3742843</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00505.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3742843">Chatterjee et al. (1986)</a> demonstrated that renal tubular cells shed in the urine are laden with cholesteryl esters and triacylglycerol and that LIPA is lacking in these cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6782865+3742843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#11" class="mim-tip-reference" title="Desai, P. K., Astrin, K. H., Thung, S. N., Gordon, R. E., Short, M. P., Coates, P. M., Desnick, R. J. <strong>Cholesteryl ester storage disease: pathologic changes in an affected fetus.</strong> Am. J. Med. Genet. 26: 689-698, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3565483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3565483</a>] [<a href="https://doi.org/10.1002/ajmg.1320260324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3565483">Desai et al. (1987)</a> made the prenatal diagnosis of CESD by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at-risk fetus. The findings in the affected fetus at 17 weeks were described. Massive lysosomal cholesterol and lipid accumulation was demonstrated in fetal hepatocytes, adrenal cells, and syncytiotrophoblasts. Of particular note was the finding of extensive necrosis in the fetal adrenal glands. Necrosis of the adrenal may precede the calcification observed later in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3565483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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<a href="#22" class="mim-tip-reference" title="Valayannopoulos, V., Mengel, E., Brassier, A., Grabowski, G. <strong>Lysosomal acid lipase deficiency: expanding differential diagnosis.</strong> Molec. Genet. Metab. 120: 62-66, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27876313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27876313</a>] [<a href="https://doi.org/10.1016/j.ymgme.2016.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27876313">Valayannopoulos et al. (2017)</a> discussed the potential misdiagnosis of CESD as other similarly presenting lysosomal storage disorders, including Gaucher disease (GD1; <a href="/entry/230800">230800</a>) and Niemann Pick disease type B (NPB; <a href="/entry/607616">607616</a>) and type C (NPC; <a href="/entry/257220">257220</a>), and clarified signs and symptoms that can aid in the correct diagnosis of CESD. CESD does not have neurologic features, which are present in NPC. In contrast to GD1, CESD does not present with oculomotor apraxia. CESD does not have lung involvement, which is present in the 3 other diseases. Liver findings in CESD include steatosis, fibrosis, and cirrhosis, which differ from those in the other 3 diseases. Decreased HDLC is a feature of CESD, NPB, and NPC, but not of GD1. Elevated cholesterol and triglyceride levels are seen in CESD and NPB, but not in GD1 or NPC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27876313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Aguisanda, F., Thorne, N., Zheng, W. <strong>Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development.</strong> Curr. Chem. Genomics Transl. Med. 11: 1-18, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28401034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28401034</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28401034[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.2174/2213988501711010001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28401034">Aguisanda et al. (2017)</a> stated that the estimated incidence rate for Wolman disease is less than 1/100,000 births; for CESD, it is 2.5/100,000 births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28401034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Di Bisceglie, A. M., Ishak, K. G., Rabin, L., Hoeg, J. M. <strong>Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin.</strong> Hepatology 11: 764-772, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2347551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2347551</a>] [<a href="https://doi.org/10.1002/hep.1840110509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2347551">Di Bisceglie et al. (1990)</a> could demonstrate no significant changes in serum lipoprotein concentrations or liver histopathology after 12 months or more of treatment with lovastatin, a cholesterol-lowering agent. <a href="#23" class="mim-tip-reference" title="Yokoyama, S., McCoy, E. <strong>Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin.</strong> J. Inherit. Metab. Dis. 15: 291-292, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528002</a>] [<a href="https://doi.org/10.1007/BF01799650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528002">Yokoyama and McCoy (1992)</a> observed some improvement with combined cholestyramine and lovastatin therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1528002+2347551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others. <strong>A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.</strong> New Eng. J. Med. 373: 1010-1020, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26352813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26352813</a>] [<a href="https://doi.org/10.1056/NEJMoa1501365" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26352813">Burton et al. (2015)</a> reported the results of a 20-week phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency in a multicenter randomized double-blind placebo-controlled study involving 66 patients. Thirty-six patients received 1 mg/kg of sebelipase alfa intravenously every other week, while 30 patients received a placebo; at the end of 20 weeks all patients entered the open-label period. There was substantial disease burden at baseline, including a very high level of LDL cholesterol (greater than 190 mg/dl) in 38 of 66 patients (58%) and cirrhosis in 10 of 32 patients (31%) who underwent biopsy. A total of 65 of the 66 patients who underwent randomization completed the double-blind portion of the trial and continued with open-label treatment. At 20 weeks, the alanine aminotransferase was normal in 11 of 36 patients (31%) in the treatment group and 2 of 30 (7%) in the placebo group (p = 0.03), with mean changes from baseline of -58 U/L versus -7 U/L (p less than 0.001). With respect to prespecified key secondary efficacy end points, <a href="#6" class="mim-tip-reference" title="Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others. <strong>A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.</strong> New Eng. J. Med. 373: 1010-1020, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26352813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26352813</a>] [<a href="https://doi.org/10.1056/NEJMoa1501365" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26352813">Burton et al. (2015)</a> observed improvements in lipid levels and reduction in hepatic fat content (p less than 0.001 for all comparisons, except p = 0.04 for triglycerides). The number of patients with adverse events was similar in the 2 groups. Most events were mild and were considered by the investigator to be unrelated to treatment. The authors concluded that sebelipase alfa therapy results in the reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26352813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CESD in the patient reported by <a href="#16" class="mim-tip-reference" title="Klima, H., Ullrich, K., Aslanidis, C., Fehringer, P., Lackner, K. J., Schmitz, G. <strong>A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.</strong> J. Clin. Invest. 92: 2713-2718, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254026</a>] [<a href="https://doi.org/10.1172/JCI116888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8254026">Klima et al. (1993)</a> and <a href="#2" class="mim-tip-reference" title="Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G. <strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong> Genomics 33: 85-93, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617513</a>] [<a href="https://doi.org/10.1006/geno.1996.0162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8617513">Aslanidis et al. (1996)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8254026+8617513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 12-year-old patient with cholesteryl ester storage disease from a nonconsanguineous Polish-German family, <a href="#16" class="mim-tip-reference" title="Klima, H., Ullrich, K., Aslanidis, C., Fehringer, P., Lackner, K. J., Schmitz, G. <strong>A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.</strong> J. Clin. Invest. 92: 2713-2718, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254026</a>] [<a href="https://doi.org/10.1172/JCI116888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8254026">Klima et al. (1993)</a> detected compound heterozygosity for mutations in the LIPA gene, a splice site mutation resulting in exon skipping (<a href="/entry/613497#0002">613497.0002</a>) and a null allele. <a href="#2" class="mim-tip-reference" title="Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G. <strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong> Genomics 33: 85-93, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617513</a>] [<a href="https://doi.org/10.1006/geno.1996.0162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8617513">Aslanidis et al. (1996)</a> determined that the null LIPA allele of this patient carried a premature termination mutation (<a href="/entry/613497#0003">613497.0003</a>). <a href="#2" class="mim-tip-reference" title="Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G. <strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong> Genomics 33: 85-93, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617513</a>] [<a href="https://doi.org/10.1006/geno.1996.0162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8617513">Aslanidis et al. (1996)</a> also reported mutations in 2 Wolman disease patients and demonstrated that the functionally relevant genetic difference between the phenotypes is that the splice site mutation detected in the Wolman disease patient (<a href="/entry/613497#0005">613497.0005</a>) permitted no correct splicing, whereas the defect observed in CESD (<a href="/entry/613497#0002">613497.0002</a>) allowed some correct splicing (3% of total mRNA), and therefore the synthesis of functional enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8254026+8617513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Azerbaijani girl, born to consanguineous parents, with cholesteryl ester storage disease, <a href="#8" class="mim-tip-reference" title="Bychkov, I. O., Kamenets, E. A., Filatova, A. Y., Skoblov, M. Y., Mikhaylova, S. V., Strokova, T. V., Gundobina, O. S., Zakharova, E. Y. <strong>The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.</strong> Molec. Genet. Metab. 127: 212-215, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31230978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31230978</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31230978">Bychkov et al. (2019)</a> identified homozygosity for a synonymous mutation in the LIPA gene (<a href="/entry/613497#0008">613497.0008</a>) that was predicted to result in abnormal splicing. Analysis of patient mRNA showed a deletion of 63-bp in exon 6 of the LIPA transcript, corresponding to activation of a cryptic splice site. The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31230978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Yoshida, H., Kuriyama, M. <strong>Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.</strong> Lab. Anim. Sci. 40: 486-489, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2170747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2170747</a>]" pmid="2170747">Yoshida and Kuriyama (1990)</a> described lysosomal acid lipase deficiency in rats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2170747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Du, H., Duanmu, M., Witte, D., Grabowski, G. A. <strong>Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.</strong> Hum. Molec. Genet. 7: 1347-1354, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700186</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700186">Du et al. (1998)</a> produced a mouse model of lysosomal acid lipase deficiency by a null mutation produced by targeting disruption of the mouse gene. Homozygous knockout mice produced no Lip1 mRNA, protein, or enzyme activity. The homozygous deficient mice were born in mendelian ratios, were normal appearing at birth, and followed normal development into adulthood. However, massive accumulation of triglycerides and cholesteryl esters occurred in several organs. By 21 days, the liver developed a yellow-orange color and was up to 2 times larger than normal. The accumulated cholesteryl esters and triglycerides were approximately 30-fold greater than normal. The heterozygous mice had approximately 50% of normal enzyme activity and did not show lipid accumulation. Male and female homozygous deficient mice were fertile and could be bred to produce progeny. This mouse model is the phenotypic model of human CESD and a biochemical and histopathologic mimic of human Wolman disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A. <strong>Enzyme therapy for lysosomal acid lipase deficiency in the mouse.</strong> Hum. Molec. Genet. 10: 1639-1648, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11487567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11487567</a>] [<a href="https://doi.org/10.1093/hmg/10.16.1639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11487567">Du et al. (2001)</a> expressed mannose-terminated human LAL in Pichia pastoris (phLAL) and administered it by tail vein injections to lal -/- mice. Mannose receptor (<a href="/entry/153618">153618</a>)-dependent uptake and lysosomal targeting of phLAL were evidenced ex vivo using competitive assays with mannose receptor-positive J774E cells, a murine monocyte/macrophage line, immunofluorescence, and western blots. Following (bolus) IV injection, phLAL was detected in Kupffer cells, lung macrophages, and intestinal macrophages in lal -/- mice. Two-month-old lal -/- mice that received phLAL injections once every 3 days for 30 days (10 doses) showed nearly complete resolution of hepatic yellow coloration and a 36% decrease in hepatic weight. Histologic analyses of numerous tissues from phLAL-treated mice showed a reduction in macrophage lipid storage. Triglyceride and cholesterol levels decreased by 50% in liver, 69% in spleen, and 50% in small intestine. The authors proposed that therapy for human Wolman disease and cholesteryl ester storage disease using recombinant LAL enzyme replacement is feasible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11487567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Hoeg1984" class="mim-tip-reference" title="Hoeg, J. M., Demosky, S. J., Jr., Pescovitz, O. H., Brewer, H. B., Jr. <strong>Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.</strong> Am. J. Hum. Genet. 36: 1190-1203, 1984.">Hoeg et al. (1984)</a>; <a href="#Koch1979" class="mim-tip-reference" title="Koch, G. A., McAvoy, M., Naylor, S. L., Byers, M. G., Haley, L. L., Eddy, R. L., Brown, J. A., Shows, T. B. <strong>Assignment of lipase A (LIPA) to human chromosome 10. (Abstract)</strong> Cytogenet. Cell Genet. 25: 174, 1979.">Koch et al. (1979)</a>; <a href="#Koch1981" class="mim-tip-reference" title="Koch, G., Lalley, P. A., McAvoy, M., Shows, T. B. <strong>Assignment of LIPA, associated with human acid lipase deficiency to human chromosome 10 and comparative assignment to mouse chromosome 19.</strong> Somat. Cell Genet. 7: 345-358, 1981.">Koch et al. (1981)</a>; <a href="#Sloan1972" class="mim-tip-reference" title="Sloan, H. R., Fredrickson, D. S. <strong>Enzyme deficiency in cholesteryl ester storage disease.</strong> J. Clin. Invest. 51: 1923-1926, 1972.">Sloan and
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Fredrickson (1972)</a>
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[<a href="https://doi.org/10.1016/s0022-3476(77)80557-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb04367.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMoa1501365" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2019.06.005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320240416" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/hep.1840110509" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/7.9.1347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.16.1639" target="_blank">Full Text</a>]
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<a id="Hoeg1984" class="mim-anchor"></a>
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Hoeg, J. M., Demosky, S. J., Jr., Pescovitz, O. H., Brewer, H. B., Jr.
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<strong>Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.</strong>
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Am. J. Hum. Genet. 36: 1190-1203, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8254026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI116888" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Koch1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koch, G. A., McAvoy, M., Naylor, S. L., Byers, M. G., Haley, L. L., Eddy, R. L., Brown, J. A., Shows, T. B.
|
|
<strong>Assignment of lipase A (LIPA) to human chromosome 10. (Abstract)</strong>
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|
Cytogenet. Cell Genet. 25: 174, 1979.
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Koch1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koch, G., Lalley, P. A., McAvoy, M., Shows, T. B.
|
|
<strong>Assignment of LIPA, associated with human acid lipase deficiency to human chromosome 10 and comparative assignment to mouse chromosome 19.</strong>
|
|
Somat. Cell Genet. 7: 345-358, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7292252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7292252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7292252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01538859" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Schiff1968" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schiff, L., Schubert, W. K., McAdams, A. J., Spiegel, E. L., O'Donnell, J. F.
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|
<strong>Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects.</strong>
|
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Am. J. Med. 44: 538-546, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5642714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5642714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5642714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(68)90054-5" target="_blank">Full Text</a>]
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</p>
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<a id="20" class="mim-anchor"></a>
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<a id="Schmitz1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmitz, G., Assmann, G.
|
|
<strong>Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)</strong>
|
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New York: McGraw-Hill (pub.) 1989. Pp. 1623-1644.
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Sloan1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sloan, H. R., Fredrickson, D. S.
|
|
<strong>Enzyme deficiency in cholesteryl ester storage disease.</strong>
|
|
J. Clin. Invest. 51: 1923-1926, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5032533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5032533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5032533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI106997" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Valayannopoulos2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valayannopoulos, V., Mengel, E., Brassier, A., Grabowski, G.
|
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<strong>Lysosomal acid lipase deficiency: expanding differential diagnosis.</strong>
|
|
Molec. Genet. Metab. 120: 62-66, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27876313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27876313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27876313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2016.11.002" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Yokoyama1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yokoyama, S., McCoy, E.
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<strong>Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin.</strong>
|
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J. Inherit. Metab. Dis. 15: 291-292, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799650" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Yoshida1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshida, H., Kuriyama, M.
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<strong>Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.</strong>
|
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Lab. Anim. Sci. 40: 486-489, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2170747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2170747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2170747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Young1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, E. P., Patrick, A. D.
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<strong>Deficiency of acid esterase activity in Wolman's disease.</strong>
|
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Arch. Dis. Child. 45: 664-668, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5477680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5477680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5477680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.45.243.664" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/02/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 08/23/2021<br>Hilary J. Vernon - updated : 05/26/2021<br>Ada Hamosh - updated : 10/18/2018<br>Ada Hamosh - updated : 9/28/2015<br>Cassandra L. Kniffin - updated : 7/12/2012<br>Anne M. Stumpf - reorganized : 7/28/2010<br>George E. Tiller - updated : 12/21/2001<br>Victor A. McKusick - updated : 9/17/1998
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/24/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/31/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/02/2023<br>carol : 08/24/2021<br>carol : 08/23/2021<br>carol : 05/27/2021<br>carol : 05/26/2021<br>carol : 04/23/2021<br>carol : 04/23/2021<br>carol : 08/02/2019<br>alopez : 10/18/2018<br>carol : 07/07/2016<br>alopez : 9/28/2015<br>carol : 12/17/2013<br>alopez : 7/18/2012<br>ckniffin : 7/12/2012<br>alopez : 3/7/2012<br>alopez : 7/28/2010<br>alopez : 7/28/2010<br>alopez : 7/22/2010<br>wwang : 4/1/2009<br>alopez : 3/17/2004<br>cwells : 1/4/2002<br>cwells : 12/21/2001<br>cwells : 12/21/2001<br>carol : 10/9/1998<br>carol : 9/21/1998<br>terry : 9/17/1998<br>mark : 10/8/1997<br>jamie : 1/21/1997<br>mark : 1/16/1997<br>jamie : 1/15/1997<br>jamie : 1/8/1997<br>mark : 1/7/1997<br>mark : 4/22/1996<br>terry : 4/10/1996<br>mark : 2/16/1996<br>mark : 2/13/1996<br>terry : 5/25/1995<br>davew : 8/22/1994<br>carol : 7/29/1994<br>mimadm : 3/12/1994<br>carol : 10/18/1993<br>carol : 2/17/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 278000
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CHOLESTERYL ESTER STORAGE DISEASE; CESD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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LYSOSOMAL ACID LIPASE DEFICIENCY, PARTIAL<br />
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LIPA DEFICIENCY, PARTIAL<br />
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LAL DEFICIENCY, PARTIAL<br />
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CHOLESTEROL ESTER HYDROLASE DEFICIENCY, PARTIAL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 57218003;
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<strong>ORPHA:</strong> 275761, 75233, 75234;
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<strong>DO:</strong> 14502;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
10q23.31
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Cholesteryl ester storage disease
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
278000
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
LIPA
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
613497
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because cholesteryl ester storage disease (CESD) is caused by homozygous or compound heterozygous mutation in the LIPA gene (613497) on chromosome 10q23.</p><p>Wolman disease (WOLD; 620151), a more severe lysosomal acid lipase deficiency, is also caused by mutation in the LIPA gene.</p>
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<strong>Description</strong>
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<p>Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD; 620151) and cholesteryl ester storage disease (CESD). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). </p>
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<strong>Clinical Features</strong>
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<p>Schiff et al. (1968) described cholesterol ester storage disease of the liver in teenage brother and sister whose livers were orange in color. Four younger sibs showed milder changes. The parents were not known to be related. Tissue accumulation of cholesterol esters and triglycerides occurs in both this disease and Wolman disease. The chemical and enzymatic abnormalities are similar. The marked difference in phenotypic expression is comparable to the difference between Hurler (607014) and Scheie (607016) syndromes; see also 607015, and the classic and visceral forms, A (257200) and B (607616), respectively, of Niemann-Pick disease. In contrast to Wolman disease, cholesterol ester storage disease is relatively mild; however, in 1 sibship 3 sisters died of acute hepatic failure at the ages of 7, 9, and 17 years (Beaudet et al., 1977). Accumulation of neutral fats and cholesterol esters in the arteries predispose affected persons to atherosclerosis. Hypercholesterolemia is common. Massive hepatomegaly and hepatic fibrosis may lead to esophageal varices. Lysosomal acid lipase A, the enzyme deficient in both Wolman disease and cholesterol ester storage disease, is one of 3 acid lipase isozymes. See lipase B (LIPB; 247980) and C (LIPC; 151670). </p><p>Young and Patrick (1970) commented on the existence of cases with the same biochemical and histologic changes as in the acute infantile form (Wolman disease) but with later onset and a much less fulminant course. One of their cases was alive and well at age 8 years, showing no clinical abnormality other than moderate hepatomegaly. The same enzyme is deficient in all these cases. Hence, they suggested the term 'acid lipase deficiency' for the whole group, with Wolman disease as the designation for the acute infantile form. </p><p>Besley et al. (1984) reported the first patient with CESD identified in Ireland. Then aged 39, with hepatomegaly and sea-blue histiocytes in the bone marrow, the patient had suffered from recurring periods of general malaise and diarrhea since age 21. </p><p>Cagle et al. (1986) concluded that patients with CESD are at risk for the development of pulmonary hypertension. Such was recognized in a 15-year-old patient who died at age 18. </p><p>Bychkov et al. (2019) reported a patient who presented at 10 months of age with hepatosplenomegaly. Abdominal ultrasound demonstrated hepatomegaly and increased liver echogenicity. Laboratory testing showed elevated liver transaminases, total cholesterol, and triglycerides. Scleral icterus and palmar erythema were seen when the patient was 2 years of age. Lysosomal acid lipase activity in leukocytes was found to be low. At age 13 years, the patient was hospitalized due to thrombocytopenia, leukopenia, anemia, hepatosplenomegaly, and signs of portal hypertension. She was diagnosed with cirrhosis, and she developed esophageal varices. Starting at age 16, she received enzyme replacement therapy with sebelipase alfa. At age 20, she had improved liver function, decreased portal hypertension, decrease in varices, improvement of hypersplenism, and resolved thrombocytopenia. </p>
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<strong>Biochemical Features</strong>
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<p>Burton and Reed (1981) demonstrated material crossreacting with antibodies to acid lipase in fibroblasts of 3 patients with Wolman disease and 3 with cholesterol ester storage disease. Quantitation of the CRM showed normal levels in both cell types. Enzyme activity was reduced about 200-fold in Wolman disease fibroblasts and 50- to 100-fold in cholesterol ester storage disease cells. Cholesterol ester storage disease was proposed to be a disorder allelic to Wolman disease (Assmann and Fredrickson, 1983). Supporting the allelic nature of Wolman and cholesteryl ester storage diseases is the occurrence of possible genetic compounds, i.e., cases of intermediate severity (Schmitz and Assmann, 1989). In both Wolman disease and cholesteryl ester storage disease, Chatterjee et al. (1986) demonstrated that renal tubular cells shed in the urine are laden with cholesteryl esters and triacylglycerol and that LIPA is lacking in these cells. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Desai et al. (1987) made the prenatal diagnosis of CESD by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at-risk fetus. The findings in the affected fetus at 17 weeks were described. Massive lysosomal cholesterol and lipid accumulation was demonstrated in fetal hepatocytes, adrenal cells, and syncytiotrophoblasts. Of particular note was the finding of extensive necrosis in the fetal adrenal glands. Necrosis of the adrenal may precede the calcification observed later in these patients. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Valayannopoulos et al. (2017) discussed the potential misdiagnosis of CESD as other similarly presenting lysosomal storage disorders, including Gaucher disease (GD1; 230800) and Niemann Pick disease type B (NPB; 607616) and type C (NPC; 257220), and clarified signs and symptoms that can aid in the correct diagnosis of CESD. CESD does not have neurologic features, which are present in NPC. In contrast to GD1, CESD does not present with oculomotor apraxia. CESD does not have lung involvement, which is present in the 3 other diseases. Liver findings in CESD include steatosis, fibrosis, and cirrhosis, which differ from those in the other 3 diseases. Decreased HDLC is a feature of CESD, NPB, and NPC, but not of GD1. Elevated cholesterol and triglyceride levels are seen in CESD and NPB, but not in GD1 or NPC. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<p>Aguisanda et al. (2017) stated that the estimated incidence rate for Wolman disease is less than 1/100,000 births; for CESD, it is 2.5/100,000 births. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<p>Di Bisceglie et al. (1990) could demonstrate no significant changes in serum lipoprotein concentrations or liver histopathology after 12 months or more of treatment with lovastatin, a cholesterol-lowering agent. Yokoyama and McCoy (1992) observed some improvement with combined cholestyramine and lovastatin therapy. </p><p>Burton et al. (2015) reported the results of a 20-week phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency in a multicenter randomized double-blind placebo-controlled study involving 66 patients. Thirty-six patients received 1 mg/kg of sebelipase alfa intravenously every other week, while 30 patients received a placebo; at the end of 20 weeks all patients entered the open-label period. There was substantial disease burden at baseline, including a very high level of LDL cholesterol (greater than 190 mg/dl) in 38 of 66 patients (58%) and cirrhosis in 10 of 32 patients (31%) who underwent biopsy. A total of 65 of the 66 patients who underwent randomization completed the double-blind portion of the trial and continued with open-label treatment. At 20 weeks, the alanine aminotransferase was normal in 11 of 36 patients (31%) in the treatment group and 2 of 30 (7%) in the placebo group (p = 0.03), with mean changes from baseline of -58 U/L versus -7 U/L (p less than 0.001). With respect to prespecified key secondary efficacy end points, Burton et al. (2015) observed improvements in lipid levels and reduction in hepatic fat content (p less than 0.001 for all comparisons, except p = 0.04 for triglycerides). The number of patients with adverse events was similar in the 2 groups. Most events were mild and were considered by the investigator to be unrelated to treatment. The authors concluded that sebelipase alfa therapy results in the reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency. </p>
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<h4>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CESD in the patient reported by Klima et al. (1993) and Aslanidis et al. (1996) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a 12-year-old patient with cholesteryl ester storage disease from a nonconsanguineous Polish-German family, Klima et al. (1993) detected compound heterozygosity for mutations in the LIPA gene, a splice site mutation resulting in exon skipping (613497.0002) and a null allele. Aslanidis et al. (1996) determined that the null LIPA allele of this patient carried a premature termination mutation (613497.0003). Aslanidis et al. (1996) also reported mutations in 2 Wolman disease patients and demonstrated that the functionally relevant genetic difference between the phenotypes is that the splice site mutation detected in the Wolman disease patient (613497.0005) permitted no correct splicing, whereas the defect observed in CESD (613497.0002) allowed some correct splicing (3% of total mRNA), and therefore the synthesis of functional enzyme. </p><p>In an Azerbaijani girl, born to consanguineous parents, with cholesteryl ester storage disease, Bychkov et al. (2019) identified homozygosity for a synonymous mutation in the LIPA gene (613497.0008) that was predicted to result in abnormal splicing. Analysis of patient mRNA showed a deletion of 63-bp in exon 6 of the LIPA transcript, corresponding to activation of a cryptic splice site. The parents were heterozygous for the mutation. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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<span class="mim-text-font">
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<p>Yoshida and Kuriyama (1990) described lysosomal acid lipase deficiency in rats. </p><p>Du et al. (1998) produced a mouse model of lysosomal acid lipase deficiency by a null mutation produced by targeting disruption of the mouse gene. Homozygous knockout mice produced no Lip1 mRNA, protein, or enzyme activity. The homozygous deficient mice were born in mendelian ratios, were normal appearing at birth, and followed normal development into adulthood. However, massive accumulation of triglycerides and cholesteryl esters occurred in several organs. By 21 days, the liver developed a yellow-orange color and was up to 2 times larger than normal. The accumulated cholesteryl esters and triglycerides were approximately 30-fold greater than normal. The heterozygous mice had approximately 50% of normal enzyme activity and did not show lipid accumulation. Male and female homozygous deficient mice were fertile and could be bred to produce progeny. This mouse model is the phenotypic model of human CESD and a biochemical and histopathologic mimic of human Wolman disease. </p><p>Du et al. (2001) expressed mannose-terminated human LAL in Pichia pastoris (phLAL) and administered it by tail vein injections to lal -/- mice. Mannose receptor (153618)-dependent uptake and lysosomal targeting of phLAL were evidenced ex vivo using competitive assays with mannose receptor-positive J774E cells, a murine monocyte/macrophage line, immunofluorescence, and western blots. Following (bolus) IV injection, phLAL was detected in Kupffer cells, lung macrophages, and intestinal macrophages in lal -/- mice. Two-month-old lal -/- mice that received phLAL injections once every 3 days for 30 days (10 doses) showed nearly complete resolution of hepatic yellow coloration and a 36% decrease in hepatic weight. Histologic analyses of numerous tissues from phLAL-treated mice showed a reduction in macrophage lipid storage. Triglyceride and cholesterol levels decreased by 50% in liver, 69% in spleen, and 50% in small intestine. The authors proposed that therapy for human Wolman disease and cholesteryl ester storage disease using recombinant LAL enzyme replacement is feasible. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Hoeg et al. (1984); Koch et al. (1979); Koch et al. (1981); Sloan and
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Fredrickson (1972)
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aguisanda, F., Thorne, N., Zheng, W.
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<strong>Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development.</strong>
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Curr. Chem. Genomics Transl. Med. 11: 1-18, 2017.
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[PubMed: 28401034]
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[Full Text: https://doi.org/10.2174/2213988501711010001]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G.
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<strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong>
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Genomics 33: 85-93, 1996.
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[PubMed: 8617513]
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<p class="mim-text-font">
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Assmann, G., Fredrickson, D. S.
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<strong>Acid lipase deficiency (Wolman's disease and cholesteryl ester storage disease). In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): Metabolic Basis of Inherited Disease. (5th ed.)</strong>
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New York: McGraw-Hill (pub.) 1983. Pp. 803-819.
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Beaudet, A. L., Ferry, G. D., Nichols, B. L., Jr., Rosenberg, H. S.
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<strong>Cholesterol ester storage disease: clinical, biochemical, and pathological studies.</strong>
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Besley, G. T. N., Broadhead, D. M., Lawlor, E., McCann, S. R., Dempsey, J. D., Drury, M. I., Crowe, J.
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<strong>Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis.</strong>
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Clin. Genet. 26: 195-203, 1984.
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Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others.
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<strong>A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.</strong>
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New Eng. J. Med. 373: 1010-1020, 2015.
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Burton, B. K., Reed, S. P.
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<strong>Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.</strong>
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Am. J. Hum. Genet. 33: 203-208, 1981.
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[PubMed: 6782865]
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Bychkov, I. O., Kamenets, E. A., Filatova, A. Y., Skoblov, M. Y., Mikhaylova, S. V., Strokova, T. V., Gundobina, O. S., Zakharova, E. Y.
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<strong>The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.</strong>
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Molec. Genet. Metab. 127: 212-215, 2019.
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[PubMed: 31230978]
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[Full Text: https://doi.org/10.1016/j.ymgme.2019.06.005]
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Cagle, P. T., Ferry, G. D., Beaudet, A. L., Hawkins, E. P.
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<strong>Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD).</strong>
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Am. J. Med. Genet. 24: 711-722, 1986.
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[PubMed: 3740103]
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[Full Text: https://doi.org/10.1002/ajmg.1320240416]
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Chatterjee, S., Castiglione, E., Kwiterovich, P. O., Jr., Hoeg, J. M., Brewer, H. B.
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<strong>Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.</strong>
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Clin. Genet. 29: 360-368, 1986.
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[PubMed: 3742843]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00505.x]
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Desai, P. K., Astrin, K. H., Thung, S. N., Gordon, R. E., Short, M. P., Coates, P. M., Desnick, R. J.
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<strong>Cholesteryl ester storage disease: pathologic changes in an affected fetus.</strong>
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Am. J. Med. Genet. 26: 689-698, 1987.
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<p class="mim-text-font">
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Di Bisceglie, A. M., Ishak, K. G., Rabin, L., Hoeg, J. M.
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<strong>Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin.</strong>
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Hepatology 11: 764-772, 1990.
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[PubMed: 2347551]
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[Full Text: https://doi.org/10.1002/hep.1840110509]
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</p>
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<p class="mim-text-font">
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Du, H., Duanmu, M., Witte, D., Grabowski, G. A.
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<strong>Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.</strong>
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Hum. Molec. Genet. 7: 1347-1354, 1998.
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[PubMed: 9700186]
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[Full Text: https://doi.org/10.1093/hmg/7.9.1347]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A.
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<strong>Enzyme therapy for lysosomal acid lipase deficiency in the mouse.</strong>
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