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<meta name="keywords" content="C5243927, acid sphingomyelinase deficiency, acid sphingomyelinase deficient niemann pick disease, acid sphingomyelinase-deficient niemann-pick disease, asm deficient niemann pick disease, asm-deficient niemann-pick disease, deficiency, acid sphingomyelinase, disease or syndrome, disease, asm-deficient niemann-pick, niemann-pick disease, asm-deficient, sphingomyelinase deficiency, acid, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). Enzyme replacement therapy (ERT) is currently FDA approved for the non-central nervous system manifestations of ASMD, regardless of type. As more affected individuals are treated with ERT for longer periods of time, the natural history of ASMD is likely to change. The most common presenting symptom in untreated NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Growth failure typically becomes evident by the second year of life. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. This feature may not be amenable to ERT. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children, although it is unclear if ERT will have an impact on this. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most untreated children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized in untreated individuals by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some central nervous system manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B, even when untreated." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1800807
|
||
ConceptID=C5243927
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acid sphingomyelinase deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800807</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5243927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Acid Sphingomyelinase Deficiency; Acid Sphingomyelinase Deficient Niemann Pick Disease; Acid Sphingomyelinase-Deficient Niemann-Pick Disease; ASM Deficient Niemann Pick Disease; ASM-Deficient Niemann-Pick Disease; Deficiency, Acid Sphingomyelinase; Disease, ASM-Deficient Niemann-Pick; Niemann-Pick Disease, ASM-Deficient; Sphingomyelinase Deficiency, Acid</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100464" target="_blank">MONDO:0100464</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1370" target="_blank">Acid Sphingomyelinase Deficiency</a></div><div>The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). Enzyme replacement therapy (ERT) is currently FDA approved for the non-central nervous system manifestations of ASMD, regardless of type. As more affected individuals are treated with ERT for longer periods of time, the natural history of ASMD is likely to change. The most common presenting symptom in untreated NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Growth failure typically becomes evident by the second year of life. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. This feature may not be amenable to ERT. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children, although it is unclear if ERT will have an impact on this. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most untreated children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized in untreated individuals by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some central nervous system manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B, even when untreated. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1370#npab.Summary" target="NBK1370">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.GeneReview_Scope" target="NBK1370">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Diagnosis" target="NBK1370">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Clinical_Characteristics" target="NBK1370">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Genetically_Related_Allelic_Disorde" target="NBK1370">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Differential_Diagnosis" target="NBK1370">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Management" target="NBK1370">Management</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Genetic_Counseling" target="NBK1370">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Resources" target="NBK1370">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Molecular_Genetics" target="NBK1370">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.Chapter_Notes" target="NBK1370">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1370#npab.References" target="NBK1370">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Melissa P Wasserstein | Edward H Schuchman <a href="/books/NBK1370" target="NBK1370" title="NCBI Bookshelf: Acid Sphingomyelinase Deficiency">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028064[DISCUI]&test_type=Clinical" ref="ncbi_uid=10348">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=10348">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10348" ref="ncbi_uid=10348">V</a></span></span><span class="TLline"><a href="/medgen/10348" ref="tree=GTR&ncbi_uid=10348&link_uid=10348" title="View MedGen record for 'Sphingomyelin/cholesterol lipidosis'">Sphingomyelin/cholesterol lipidosis</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5243927[DISCUI]&test_type=Clinical" ref="ncbi_uid=1800807">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5243927[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1800807">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=1800807">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1800807" ref="ncbi_uid=1800807">V</a></span></span><span class="TLline">Acid sphingomyelinase deficiency</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842316" ref="tree=GTR&ncbi_uid=1842316&link_uid=1842316" title="View MedGen record for 'Chronic neurovisceral acid sphingomyelinase deficiency'">Chronic neurovisceral acid sphingomyelinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82781" target="_blank" href="/omim/607616">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/82781" ref="tree=GTR&ncbi_uid=82781&link_uid=82781" title="View MedGen record for 'Niemann-Pick disease type E'">Niemann-Pick disease type E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78650" target="_blank" href="/omim/257200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&ncbi_uid=78650&link_uid=78650" title="View MedGen record for 'Niemann-Pick disease, type A'">Niemann-Pick disease, type A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268243[DISCUI]&test_type=Clinical" ref="ncbi_uid=78651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78651" target="_blank" href="/omim/607608">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78651">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78651" ref="ncbi_uid=78651">V</a></span></span><span class="TLline"><a href="/medgen/78651" ref="tree=GTR&ncbi_uid=78651&link_uid=78651" title="View MedGen record for 'Niemann-Pick disease, type B'">Niemann-Pick disease, type B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220756[DISCUI]&test_type=Clinical" ref="ncbi_uid=67399">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0220756[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=67399">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67399" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=67399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67399" ref="ncbi_uid=67399">V</a></span></span><span class="TLline"><a href="/medgen/67399" ref="tree=GTR&ncbi_uid=67399&link_uid=67399" title="View MedGen record for 'Niemann-Pick disease, type C'">Niemann-Pick disease, type C</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826101" ref="tree=GTR&ncbi_uid=1826101&link_uid=1826101" title="View MedGen record for 'Niemann-Pick disease type C, adult neurologic onset'">Niemann-Pick disease type C, adult neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842257" ref="tree=GTR&ncbi_uid=1842257&link_uid=1842257" title="View MedGen record for 'Niemann-Pick disease type C, juvenile neurologic onset'">Niemann-Pick disease type C, juvenile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843353" ref="tree=GTR&ncbi_uid=1843353&link_uid=1843353" title="View MedGen record for 'Niemann-Pick disease type C, late infantile neurologic onset'">Niemann-Pick disease type C, late infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842400" ref="tree=GTR&ncbi_uid=1842400&link_uid=1842400" title="View MedGen record for 'Niemann-Pick disease type C, severe early infantile neurologic onset'">Niemann-Pick disease type C, severe early infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842349" ref="tree=GTR&ncbi_uid=1842349&link_uid=1842349" title="View MedGen record for 'Niemann-Pick disease type C, severe perinatal form'">Niemann-Pick disease type C, severe perinatal form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3179455[DISCUI]&test_type=Clinical" ref="ncbi_uid=465922">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=465922" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=465922">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=465922" ref="ncbi_uid=465922">V</a></span></span><span class="TLline"><a href="/medgen/465922" ref="tree=GTR&ncbi_uid=465922&link_uid=465922" title="View MedGen record for 'Niemann-Pick disease, type C1'">Niemann-Pick disease, type C1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843366[DISCUI]&test_type=Clinical" ref="ncbi_uid=335942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335942" target="_blank" href="/omim/601015">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=335942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335942" ref="ncbi_uid=335942">V</a></span></span><span class="TLline"><a href="/medgen/335942" ref="tree=GTR&ncbi_uid=335942&link_uid=335942" title="View MedGen record for 'Niemann-Pick disease, type C2'">Niemann-Pick disease, type C2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span><ul><li><span class="matched_ds">Acid sphingomyelinase deficiency</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38739391">Newborn Screening for 6 Lysosomal Storage Disorders in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang S,
|
||
Zhan X,
|
||
Liu Y,
|
||
Song H,
|
||
Gong Z,
|
||
Han L,
|
||
Maegawa GHB,
|
||
Gu X,
|
||
Zhang H</span><br />
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||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2024 May 1;7(5):e2410754.
|
||
doi: 10.1001/jamanetworkopen.2024.10754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38739391" target="_blank">38739391</a><a href="/pmc/articles/PMC11091758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37069638">Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geberhiwot T,
|
||
Wasserstein M,
|
||
Wanninayake S,
|
||
Bolton SC,
|
||
Dardis A,
|
||
Lehman A,
|
||
Lidove O,
|
||
Dawson C,
|
||
Giugliani R,
|
||
Imrie J,
|
||
Hopkin J,
|
||
Green J,
|
||
de Vicente Corbeira D,
|
||
Madathil S,
|
||
Mengel E,
|
||
Ezgü F,
|
||
Pettazzoni M,
|
||
Sjouke B,
|
||
Hollak C,
|
||
Vanier MT,
|
||
McGovern M,
|
||
Schuchman E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Apr 17;18(1):85.
|
||
doi: 10.1186/s13023-023-02686-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37069638" target="_blank">37069638</a><a href="/pmc/articles/PMC10108815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33675270">Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
||
Maegawa GHB,
|
||
Zhan X,
|
||
Gao X,
|
||
Wang Y,
|
||
Xu F,
|
||
Qiu W,
|
||
Han L,
|
||
Gu X,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 May;42(5):614-625.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1002/humu.24192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33675270" target="_blank">33675270</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acid%20sphingomyelinase%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (16)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Niemann-Pick.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased acid sphingomyelinase, Acid Sphingomyelinase Deficiency (ASMD), 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/ASMD-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Acid Sphingomyelinase Deficiency (ASMD): Decreased Acid Sphingomyelinase (ASM), 2022</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39103853">Acid sphingomyelinase deficiency in France: a retrospective survival study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mauhin W,
|
||
Guffon N,
|
||
Vanier MT,
|
||
Froissart R,
|
||
Cano A,
|
||
Douillard C,
|
||
Lavigne C,
|
||
Héron B,
|
||
Belmatoug N,
|
||
Uzunhan Y,
|
||
Lacombe D,
|
||
Levade T,
|
||
Duvivier A,
|
||
Pulikottil-Jacob R,
|
||
Laredo F,
|
||
Pichard S,
|
||
Lidove O;
|
||
ASSUR Study Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Aug 5;19(1):289.
|
||
doi: 10.1186/s13023-024-03234-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39103853" target="_blank">39103853</a><a href="/pmc/articles/PMC11301966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38739391">Newborn Screening for 6 Lysosomal Storage Disorders in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang S,
|
||
Zhan X,
|
||
Liu Y,
|
||
Song H,
|
||
Gong Z,
|
||
Han L,
|
||
Maegawa GHB,
|
||
Gu X,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2024 May 1;7(5):e2410754.
|
||
doi: 10.1001/jamanetworkopen.2024.10754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38739391" target="_blank">38739391</a><a href="/pmc/articles/PMC11091758" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35471153">A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein M,
|
||
Lachmann R,
|
||
Hollak C,
|
||
Arash-Kaps L,
|
||
Barbato A,
|
||
Gallagher RC,
|
||
Giugliani R,
|
||
Guelbert NB,
|
||
Ikezoe T,
|
||
Lidove O,
|
||
Mabe P,
|
||
Mengel E,
|
||
Scarpa M,
|
||
Senates E,
|
||
Tchan M,
|
||
Villarrubia J,
|
||
Chen Y,
|
||
Furey S,
|
||
Thurberg BL,
|
||
Zaher A,
|
||
Kumar M</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Jul;24(7):1425-1436.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1016/j.gim.2022.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35471153" target="_blank">35471153</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33927007">Interstitial lung disease in lysosomal storage disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Borie R,
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Crestani B,
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Guyard A,
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Lidove O</span><br />
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<span class="medgenPMjournal">Eur Respir Rev</span>
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2021 Jun 30;30(160)
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Epub 2021 Apr 29
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|
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<span class="bold">PMID: </span><a href="/pubmed/33927007" target="_blank">33927007</a><a href="/pmc/articles/PMC9489062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28228103">Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">McGovern MM,
|
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Avetisyan R,
|
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Sanson BJ,
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Lidove O</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2017 Feb 23;12(1):41.
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doi: 10.1186/s13023-017-0572-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/28228103" target="_blank">28228103</a><a href="/pmc/articles/PMC5322625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acid%20sphingomyelinase%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38397448">The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tirelli C,
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Rondinone O,
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Italia M,
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Mira S,
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Belmonte LA,
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De Grassi M,
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Guido G,
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Centanni S</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
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2024 Feb 11;14(2)
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<span class="bold">PMID: </span><a href="/pubmed/38397448" target="_blank">38397448</a><a href="/pmc/articles/PMC10886890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37069638">Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Geberhiwot T,
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Wasserstein M,
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Wanninayake S,
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Bolton SC,
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Dardis A,
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Lehman A,
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Lidove O,
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Dawson C,
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Giugliani R,
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Imrie J,
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Hopkin J,
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Green J,
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de Vicente Corbeira D,
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Madathil S,
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Mengel E,
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Ezgü F,
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Pettazzoni M,
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Sjouke B,
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Hollak C,
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Vanier MT,
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McGovern M,
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Schuchman E</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37069638" target="_blank">37069638</a><a href="/pmc/articles/PMC10108815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/37003582">The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pfrieger FW</span><br />
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<span class="medgenPMjournal">Prog Lipid Res</span>
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2023 Apr;90:101225.
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Epub 2023 Mar 31
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doi: 10.1016/j.plipres.2023.101225.
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<span class="bold">PMID: </span><a href="/pubmed/37003582" target="_blank">37003582</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33675270">Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
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Maegawa GHB,
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Zhan X,
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Gao X,
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Wang Y,
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Xu F,
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Qiu W,
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Han L,
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Gu X,
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<span class="medgenPMjournal">Hum Mutat</span>
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2021 May;42(5):614-625.
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Epub 2021 Mar 19
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doi: 10.1002/humu.24192.
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<span class="bold">PMID: </span><a href="/pubmed/33675270" target="_blank">33675270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28228103">Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">McGovern MM,
|
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Avetisyan R,
|
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Sanson BJ,
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Lidove O</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2017 Feb 23;12(1):41.
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doi: 10.1186/s13023-017-0572-x.
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<span class="bold">PMID: </span><a href="/pubmed/28228103" target="_blank">28228103</a><a href="/pmc/articles/PMC5322625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acid%20sphingomyelinase%20deficiency%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (55)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38773871">Regulatory news: Olipudase alfa-rpcp (Xenpozyme™) for treatment of non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients-FDA Approval summary.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hon YY,
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Zaidi A;
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Review Team,
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Donohue K,
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2024 Jul;47(4):575-577.
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doi: 10.1002/jimd.12754.
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<span class="bold">PMID: </span><a href="/pubmed/38773871" target="_blank">38773871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38042851">Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein MP,
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Lachmann R,
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Hollak C,
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Barbato A,
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Gallagher RC,
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Giugliani R,
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Guelbert NB,
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Hennermann JB,
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Ikezoe T,
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Lidove O,
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Mabe P,
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Mengel E,
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Scarpa M,
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Senates E,
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Tchan M,
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Villarrubia J,
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Thurberg BL,
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Yarramaneni A,
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Armstrong NM,
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Kim Y,
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Kumar M</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2023 Dec 2;18(1):378.
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doi: 10.1186/s13023-023-02983-0.
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<span class="bold">PMID: </span><a href="/pubmed/38042851" target="_blank">38042851</a><a href="/pmc/articles/PMC10693698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35639287">Olipudase Alfa: First Approval.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Keam SJ</span><br />
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<span class="medgenPMjournal">Drugs</span>
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<span class="bold">PMID: </span><a href="/pubmed/35639287" target="_blank">35639287</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/35471153">A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein M,
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Lachmann R,
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Hollak C,
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Arash-Kaps L,
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Barbato A,
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Gallagher RC,
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Giugliani R,
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Guelbert NB,
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Ikezoe T,
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Lidove O,
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Mabe P,
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Mengel E,
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Scarpa M,
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Senates E,
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Tchan M,
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Villarrubia J,
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Chen Y,
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Furey S,
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Thurberg BL,
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Zaher A,
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Kumar M</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jul;24(7):1425-1436.
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Epub 2022 Apr 26
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doi: 10.1016/j.gim.2022.03.021.
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<span class="bold">PMID: </span><a href="/pubmed/35471153" target="_blank">35471153</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34884674">Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pinto C,
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Sousa D,
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Ghilas V,
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Dardis A,
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Scarpa M,
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Macedo MF</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Nov 28;22(23)
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<span class="bold">PMID: </span><a href="/pubmed/34884674" target="_blank">34884674</a><a href="/pmc/articles/PMC8657623" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acid%20sphingomyelinase%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35471153">A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein M,
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Lachmann R,
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Hollak C,
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Arash-Kaps L,
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Barbato A,
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Gallagher RC,
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Giugliani R,
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Guelbert NB,
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Ikezoe T,
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Lidove O,
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Mabe P,
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Mengel E,
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Scarpa M,
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Senates E,
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Tchan M,
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Villarrubia J,
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Chen Y,
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Furey S,
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Thurberg BL,
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Zaher A,
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Kumar M</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jul;24(7):1425-1436.
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Epub 2022 Apr 26
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doi: 10.1016/j.gim.2022.03.021.
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<span class="bold">PMID: </span><a href="/pubmed/35471153" target="_blank">35471153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33675270">Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hu J,
|
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Maegawa GHB,
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Zhan X,
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Gao X,
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Wang Y,
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Xu F,
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Qiu W,
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Han L,
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Gu X,
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Zhang H</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2021 May;42(5):614-625.
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Epub 2021 Mar 19
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doi: 10.1002/humu.24192.
|
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<span class="bold">PMID: </span><a href="/pubmed/33675270" target="_blank">33675270</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/32088119">Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Eskes ECB,
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Sjouke B,
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Vaz FM,
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Goorden SMI,
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van Kuilenburg ABP,
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Aerts JMFG,
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Hollak CEM</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2020 May;130(1):16-26.
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<span class="bold">PMID: </span><a href="/pubmed/32088119" target="_blank">32088119</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28228103">Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">McGovern MM,
|
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Avetisyan R,
|
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Sanson BJ,
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Lidove O</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2017 Feb 23;12(1):41.
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doi: 10.1186/s13023-017-0572-x.
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<span class="bold">PMID: </span><a href="/pubmed/28228103" target="_blank">28228103</a><a href="/pmc/articles/PMC5322625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/16601902">Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ishii H,
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Takahashi T,
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Toyono M,
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Tamura M,
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Harada K,
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Yoshida M,
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Nishikawa Y,
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Enomoto K,
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<span class="bold">PMID: </span><a href="/pubmed/16601902" target="_blank">16601902</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acid%20sphingomyelinase%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39103853">Acid sphingomyelinase deficiency in France: a retrospective survival study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mauhin W,
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Guffon N,
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Vanier MT,
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Froissart R,
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Cano A,
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Douillard C,
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Lavigne C,
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Héron B,
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Belmatoug N,
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Uzunhan Y,
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Lacombe D,
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Levade T,
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Duvivier A,
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Pulikottil-Jacob R,
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Laredo F,
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Pichard S,
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Lidove O;
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2024 Aug 5;19(1):289.
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<span class="bold">PMID: </span><a href="/pubmed/39103853" target="_blank">39103853</a><a href="/pmc/articles/PMC11301966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38042851">Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein MP,
|
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Lachmann R,
|
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Hollak C,
|
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Barbato A,
|
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Gallagher RC,
|
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Giugliani R,
|
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Guelbert NB,
|
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Hennermann JB,
|
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Ikezoe T,
|
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Lidove O,
|
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Mabe P,
|
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Mengel E,
|
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Scarpa M,
|
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Senates E,
|
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Tchan M,
|
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Villarrubia J,
|
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Thurberg BL,
|
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Yarramaneni A,
|
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Armstrong NM,
|
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Kim Y,
|
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Kumar M</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2023 Dec 2;18(1):378.
|
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doi: 10.1186/s13023-023-02983-0.
|
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<span class="bold">PMID: </span><a href="/pubmed/38042851" target="_blank">38042851</a><a href="/pmc/articles/PMC10693698" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37003582">The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfrieger FW</span><br />
|
||
<span class="medgenPMjournal">Prog Lipid Res</span>
|
||
2023 Apr;90:101225.
|
||
Epub 2023 Mar 31
|
||
doi: 10.1016/j.plipres.2023.101225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37003582" target="_blank">37003582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35471153">A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wasserstein M,
|
||
Lachmann R,
|
||
Hollak C,
|
||
Arash-Kaps L,
|
||
Barbato A,
|
||
Gallagher RC,
|
||
Giugliani R,
|
||
Guelbert NB,
|
||
Ikezoe T,
|
||
Lidove O,
|
||
Mabe P,
|
||
Mengel E,
|
||
Scarpa M,
|
||
Senates E,
|
||
Tchan M,
|
||
Villarrubia J,
|
||
Chen Y,
|
||
Furey S,
|
||
Thurberg BL,
|
||
Zaher A,
|
||
Kumar M</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jul;24(7):1425-1436.
|
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Epub 2022 Apr 26
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doi: 10.1016/j.gim.2022.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35471153" target="_blank">35471153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32088119">Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eskes ECB,
|
||
Sjouke B,
|
||
Vaz FM,
|
||
Goorden SMI,
|
||
van Kuilenburg ABP,
|
||
Aerts JMFG,
|
||
Hollak CEM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 May;130(1):16-26.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1016/j.ymgme.2020.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32088119" target="_blank">32088119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acid%20sphingomyelinase%20deficiency%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5243927%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C5243927%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
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<li><a href="/gtr/tests?term=C5243927%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
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