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<meta name="keywords" content="C0751278, arylsulfatase a deficiency, late infantile form, disease or syndrome, greenfield disease, greenfield's disease, infant metachromatic leukodystrophies, infant metachromatic leukodystrophy, infant-type metachromatic leukodystrophies, infant-type metachromatic leukodystrophy, late infantile metachromatic leucodystrophy, metachromatic leukodystrophies, infant, metachromatic leukodystrophies, infant-type, metachromatic leukodystrophy, congenital type, metachromatic leukodystrophy, infant, metachromatic leukodystrophy, infant type, metachromatic leukodystrophy, infant-type, metachromatic leukodystrophy, late infantile, metachromatic leukodystrophy, late infantile form, metachromatic leukodystrophy, late infantile type, mld, late infantile form, 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="A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=155529
|
||
ConceptID=C0751278
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Metachromatic leukodystrophy, late infantile form</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155529</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."><span class="highlight" style="background-color:">C0751278</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Metachromatic leukodystrophy, late infantile</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Late infantile metachromatic leucodystrophy (47683004); Greenfield disease (47683004); Metachromatic leukodystrophy, congenital type (40802007); Metachromatic leukodystrophy, late infantile type (47683004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017729" target="_blank">MONDO:0017729</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/250100" target="_blank">250100</a>; <a href="https://omim.org/entry/607574" target="_blank">607574</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309256">ORPHA309256</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</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="matched_ds"><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=155529" target="_blank" href="/omim/250100">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155529" ref="ncbi_uid=155529">V</a></span></span><span class="TLline">Metachromatic leukodystrophy, late infantile form</span></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/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span><ul><li><span class="matched_ds">Metachromatic leukodystrophy, late infantile form</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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/38613540">Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
Bonkowsky JL,
|
||
Boelens JJ,
|
||
Mallack E,
|
||
Ahrens-Nicklas R,
|
||
Bernat JA,
|
||
Bley A,
|
||
Burton B,
|
||
Darling A,
|
||
Eichler F,
|
||
Eklund E,
|
||
Emrick L,
|
||
Escolar M,
|
||
Fatemi A,
|
||
Fraser JL,
|
||
Gaviglio A,
|
||
Keller S,
|
||
Patterson MC,
|
||
Orchard P,
|
||
Orthmann-Murphy J,
|
||
Santoro JD,
|
||
Schöls L,
|
||
Sevin C,
|
||
Srivastava IN,
|
||
Rajan D,
|
||
Rubin JP,
|
||
Van Haren K,
|
||
Wasserstein M,
|
||
Zerem A,
|
||
Fumagalli F,
|
||
Laugwitz L,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Cytotherapy</span>
|
||
2024 Jul;26(7):739-748.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1016/j.jcyt.2024.03.487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38613540" target="_blank">38613540</a><a href="/pmc/articles/PMC11348704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37848385">Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben Issa A,
|
||
Kamoun F,
|
||
Bouchaala W,
|
||
Charfi Triki C,
|
||
Fakhfakh F</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2024 Feb;84(1):35-46.
|
||
Epub 2023 Oct 17
|
||
doi: 10.1002/jdn.10306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37848385" target="_blank">37848385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12445909">Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumann N,
|
||
Turpin JC,
|
||
Lefevre M,
|
||
Colsch B</span><br />
|
||
<span class="medgenPMjournal">J Physiol Paris</span>
|
||
2002 Apr-Jun;96(3-4):301-6.
|
||
doi: 10.1016/s0928-4257(02)00019-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12445909" target="_blank">12445909</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(metachromatic%20leukodystrophy%2C%20late%20infantile%20form)%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 (3)</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://publications.aap.org/pediatrics/article/148/3/e2021053126/181065/Leukodystrophies-in-Children-Diagnosis-Care-and" target="_blank">Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.</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/39951964">The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavazzi F,
|
||
Charsar B,
|
||
Hamilton E,
|
||
Erler JA,
|
||
Patel V,
|
||
Woidill S,
|
||
Sevagamoorthy A,
|
||
Helman G,
|
||
Schmidt J,
|
||
Pizzino A,
|
||
Muirhead K,
|
||
Takanohashi A,
|
||
Bonkowsky JL,
|
||
Meyerhoffer K,
|
||
Simons C,
|
||
Doi H,
|
||
Satoko M,
|
||
Matsumoto N,
|
||
Delgado MR,
|
||
Sanchez-Castillo M,
|
||
Wang J,
|
||
de Carvalho DR,
|
||
Tournev I,
|
||
Chamova T,
|
||
Jordanova A,
|
||
Clegg NJ,
|
||
Nicita F,
|
||
Bertini E,
|
||
Teng M,
|
||
Williams D,
|
||
Tonduti D,
|
||
Houlden H,
|
||
Stellingwerff M,
|
||
Wassmer E,
|
||
Garcia-Cazorla A,
|
||
Bernard G,
|
||
Mirchi A,
|
||
Toutounchi H,
|
||
Wolf NI,
|
||
van der Knaap MS,
|
||
Shults J,
|
||
Adang LA,
|
||
Vanderver AL</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2025 Mar;144(3):109048.
|
||
Epub 2025 Feb 1
|
||
doi: 10.1016/j.ymgme.2025.109048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39951964" target="_blank">39951964</a><a href="/pmc/articles/PMC11875891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38613540">Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
Bonkowsky JL,
|
||
Boelens JJ,
|
||
Mallack E,
|
||
Ahrens-Nicklas R,
|
||
Bernat JA,
|
||
Bley A,
|
||
Burton B,
|
||
Darling A,
|
||
Eichler F,
|
||
Eklund E,
|
||
Emrick L,
|
||
Escolar M,
|
||
Fatemi A,
|
||
Fraser JL,
|
||
Gaviglio A,
|
||
Keller S,
|
||
Patterson MC,
|
||
Orchard P,
|
||
Orthmann-Murphy J,
|
||
Santoro JD,
|
||
Schöls L,
|
||
Sevin C,
|
||
Srivastava IN,
|
||
Rajan D,
|
||
Rubin JP,
|
||
Van Haren K,
|
||
Wasserstein M,
|
||
Zerem A,
|
||
Fumagalli F,
|
||
Laugwitz L,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Cytotherapy</span>
|
||
2024 Jul;26(7):739-748.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1016/j.jcyt.2024.03.487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38613540" target="_blank">38613540</a><a href="/pmc/articles/PMC11348704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31036045">Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harrington M,
|
||
Whalley D,
|
||
Twiss J,
|
||
Rushton R,
|
||
Martin S,
|
||
Huynh L,
|
||
Yang H</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Apr 29;14(1):89.
|
||
doi: 10.1186/s13023-019-1060-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31036045" target="_blank">31036045</a><a href="/pmc/articles/PMC6489348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20596894">Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Artigalás O,
|
||
Lagranha VL,
|
||
Saraiva-Pereira ML,
|
||
Burin MG,
|
||
Lourenço CM,
|
||
van der Linden H Jr,
|
||
Santos ML,
|
||
Rosemberg S,
|
||
Steiner CE,
|
||
Kok F,
|
||
de Souza CF,
|
||
Jardim LB,
|
||
Giugliani R,
|
||
Schwartz IV</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2010 Dec;33 Suppl 3:S257-62.
|
||
Epub 2010 Jul 2
|
||
doi: 10.1007/s10545-010-9140-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20596894" target="_blank">20596894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/818606">The cerebral lipidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malone MJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1976 May;23(2):303-26.
|
||
doi: 10.1016/s0031-3955(16)33273-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/818606" target="_blank">818606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38613540">Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adang LA,
|
||
Bonkowsky JL,
|
||
Boelens JJ,
|
||
Mallack E,
|
||
Ahrens-Nicklas R,
|
||
Bernat JA,
|
||
Bley A,
|
||
Burton B,
|
||
Darling A,
|
||
Eichler F,
|
||
Eklund E,
|
||
Emrick L,
|
||
Escolar M,
|
||
Fatemi A,
|
||
Fraser JL,
|
||
Gaviglio A,
|
||
Keller S,
|
||
Patterson MC,
|
||
Orchard P,
|
||
Orthmann-Murphy J,
|
||
Santoro JD,
|
||
Schöls L,
|
||
Sevin C,
|
||
Srivastava IN,
|
||
Rajan D,
|
||
Rubin JP,
|
||
Van Haren K,
|
||
Wasserstein M,
|
||
Zerem A,
|
||
Fumagalli F,
|
||
Laugwitz L,
|
||
Vanderver A</span><br />
|
||
<span class="medgenPMjournal">Cytotherapy</span>
|
||
2024 Jul;26(7):739-748.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1016/j.jcyt.2024.03.487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38613540" target="_blank">38613540</a><a href="/pmc/articles/PMC11348704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37635556">Stagger along the Corpus Callosum - A Rare form of Adult Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amba P,
|
||
Wilson V,
|
||
Hosur B</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2023 Jul-Aug;71(4):853-854.
|
||
doi: 10.4103/0028-3886.383822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37635556" target="_blank">37635556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33226437">T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin P,
|
||
Hagberg GE,
|
||
Schultz T,
|
||
Harzer K,
|
||
Klose U,
|
||
Bender B,
|
||
Nägele T,
|
||
Scheffler K,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Clin Neuroradiol</span>
|
||
2021 Dec;31(4):969-980.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1007/s00062-020-00975-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33226437" target="_blank">33226437</a><a href="/pmc/articles/PMC8648649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20571983">Metachromatic leukodystrophy--an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gieselmann V,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2010 Feb;41(1):1-6.
|
||
Epub 2010 Jun 22
|
||
doi: 10.1055/s-0030-1253412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20571983" target="_blank">20571983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9709996">Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination. 1957.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Austin JH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1998 Aug;51(2):333 and 12 pages following.
|
||
doi: 10.1212/wnl.51.2.333-a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9709996" target="_blank">9709996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%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 (59)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39951964">The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavazzi F,
|
||
Charsar B,
|
||
Hamilton E,
|
||
Erler JA,
|
||
Patel V,
|
||
Woidill S,
|
||
Sevagamoorthy A,
|
||
Helman G,
|
||
Schmidt J,
|
||
Pizzino A,
|
||
Muirhead K,
|
||
Takanohashi A,
|
||
Bonkowsky JL,
|
||
Meyerhoffer K,
|
||
Simons C,
|
||
Doi H,
|
||
Satoko M,
|
||
Matsumoto N,
|
||
Delgado MR,
|
||
Sanchez-Castillo M,
|
||
Wang J,
|
||
de Carvalho DR,
|
||
Tournev I,
|
||
Chamova T,
|
||
Jordanova A,
|
||
Clegg NJ,
|
||
Nicita F,
|
||
Bertini E,
|
||
Teng M,
|
||
Williams D,
|
||
Tonduti D,
|
||
Houlden H,
|
||
Stellingwerff M,
|
||
Wassmer E,
|
||
Garcia-Cazorla A,
|
||
Bernard G,
|
||
Mirchi A,
|
||
Toutounchi H,
|
||
Wolf NI,
|
||
van der Knaap MS,
|
||
Shults J,
|
||
Adang LA,
|
||
Vanderver AL</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2025 Mar;144(3):109048.
|
||
Epub 2025 Feb 1
|
||
doi: 10.1016/j.ymgme.2025.109048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39951964" target="_blank">39951964</a><a href="/pmc/articles/PMC11875891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35152000">Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beerepoot S,
|
||
Wolf NI,
|
||
Wehner K,
|
||
Bender B,
|
||
van der Knaap MS,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Mar;37:87-93.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1016/j.ejpn.2022.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35152000" target="_blank">35152000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31186049">Phenotypic variation between siblings with Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elgün S,
|
||
Waibel J,
|
||
Kehrer C,
|
||
van Rappard D,
|
||
Böhringer J,
|
||
Beck-Wödl S,
|
||
Just J,
|
||
Schöls L,
|
||
Wolf N,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Jun 11;14(1):136.
|
||
doi: 10.1186/s13023-019-1113-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31186049" target="_blank">31186049</a><a href="/pmc/articles/PMC6560893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23348427">Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin HR,
|
||
Poe MD,
|
||
Provenzale JM,
|
||
Kurtzberg J,
|
||
Mendizabal A,
|
||
Escolar ML</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2013 Apr;19(4):616-24.
|
||
Epub 2013 Jan 22
|
||
doi: 10.1016/j.bbmt.2013.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23348427" target="_blank">23348427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21707604">The natural course of gross motor deterioration in metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kehrer C,
|
||
Blumenstock G,
|
||
Gieselmann V,
|
||
Krägeloh-Mann I;
|
||
GERMAN LEUKONET</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2011 Sep;53(9):850-855.
|
||
Epub 2011 Jun 27
|
||
doi: 10.1111/j.1469-8749.2011.04028.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21707604" target="_blank">21707604</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39951964">The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavazzi F,
|
||
Charsar B,
|
||
Hamilton E,
|
||
Erler JA,
|
||
Patel V,
|
||
Woidill S,
|
||
Sevagamoorthy A,
|
||
Helman G,
|
||
Schmidt J,
|
||
Pizzino A,
|
||
Muirhead K,
|
||
Takanohashi A,
|
||
Bonkowsky JL,
|
||
Meyerhoffer K,
|
||
Simons C,
|
||
Doi H,
|
||
Satoko M,
|
||
Matsumoto N,
|
||
Delgado MR,
|
||
Sanchez-Castillo M,
|
||
Wang J,
|
||
de Carvalho DR,
|
||
Tournev I,
|
||
Chamova T,
|
||
Jordanova A,
|
||
Clegg NJ,
|
||
Nicita F,
|
||
Bertini E,
|
||
Teng M,
|
||
Williams D,
|
||
Tonduti D,
|
||
Houlden H,
|
||
Stellingwerff M,
|
||
Wassmer E,
|
||
Garcia-Cazorla A,
|
||
Bernard G,
|
||
Mirchi A,
|
||
Toutounchi H,
|
||
Wolf NI,
|
||
van der Knaap MS,
|
||
Shults J,
|
||
Adang LA,
|
||
Vanderver AL</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2025 Mar;144(3):109048.
|
||
Epub 2025 Feb 1
|
||
doi: 10.1016/j.ymgme.2025.109048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39951964" target="_blank">39951964</a><a href="/pmc/articles/PMC11875891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37848385">Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben Issa A,
|
||
Kamoun F,
|
||
Bouchaala W,
|
||
Charfi Triki C,
|
||
Fakhfakh F</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2024 Feb;84(1):35-46.
|
||
Epub 2023 Oct 17
|
||
doi: 10.1002/jdn.10306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37848385" target="_blank">37848385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33226437">T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin P,
|
||
Hagberg GE,
|
||
Schultz T,
|
||
Harzer K,
|
||
Klose U,
|
||
Bender B,
|
||
Nägele T,
|
||
Scheffler K,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Clin Neuroradiol</span>
|
||
2021 Dec;31(4):969-980.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1007/s00062-020-00975-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33226437" target="_blank">33226437</a><a href="/pmc/articles/PMC8648649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31186049">Phenotypic variation between siblings with Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elgün S,
|
||
Waibel J,
|
||
Kehrer C,
|
||
van Rappard D,
|
||
Böhringer J,
|
||
Beck-Wödl S,
|
||
Just J,
|
||
Schöls L,
|
||
Wolf N,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Jun 11;14(1):136.
|
||
doi: 10.1186/s13023-019-1113-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31186049" target="_blank">31186049</a><a href="/pmc/articles/PMC6560893" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20596894">Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Artigalás O,
|
||
Lagranha VL,
|
||
Saraiva-Pereira ML,
|
||
Burin MG,
|
||
Lourenço CM,
|
||
van der Linden H Jr,
|
||
Santos ML,
|
||
Rosemberg S,
|
||
Steiner CE,
|
||
Kok F,
|
||
de Souza CF,
|
||
Jardim LB,
|
||
Giugliani R,
|
||
Schwartz IV</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2010 Dec;33 Suppl 3:S257-62.
|
||
Epub 2010 Jul 2
|
||
doi: 10.1007/s10545-010-9140-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20596894" target="_blank">20596894</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39951964">The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gavazzi F,
|
||
Charsar B,
|
||
Hamilton E,
|
||
Erler JA,
|
||
Patel V,
|
||
Woidill S,
|
||
Sevagamoorthy A,
|
||
Helman G,
|
||
Schmidt J,
|
||
Pizzino A,
|
||
Muirhead K,
|
||
Takanohashi A,
|
||
Bonkowsky JL,
|
||
Meyerhoffer K,
|
||
Simons C,
|
||
Doi H,
|
||
Satoko M,
|
||
Matsumoto N,
|
||
Delgado MR,
|
||
Sanchez-Castillo M,
|
||
Wang J,
|
||
de Carvalho DR,
|
||
Tournev I,
|
||
Chamova T,
|
||
Jordanova A,
|
||
Clegg NJ,
|
||
Nicita F,
|
||
Bertini E,
|
||
Teng M,
|
||
Williams D,
|
||
Tonduti D,
|
||
Houlden H,
|
||
Stellingwerff M,
|
||
Wassmer E,
|
||
Garcia-Cazorla A,
|
||
Bernard G,
|
||
Mirchi A,
|
||
Toutounchi H,
|
||
Wolf NI,
|
||
van der Knaap MS,
|
||
Shults J,
|
||
Adang LA,
|
||
Vanderver AL</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2025 Mar;144(3):109048.
|
||
Epub 2025 Feb 1
|
||
doi: 10.1016/j.ymgme.2025.109048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39951964" target="_blank">39951964</a><a href="/pmc/articles/PMC11875891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38330194">Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel A,
|
||
Faul C,
|
||
Reuss K,
|
||
Schröder JC,
|
||
Lang PJ,
|
||
Lengerke C,
|
||
Weissert N,
|
||
Hengel H,
|
||
Gröschel S,
|
||
Schoels L,
|
||
Bethge WA</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2024 Mar 26;8(6):1504-1508.
|
||
doi: 10.1182/bloodadvances.2023011836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38330194" target="_blank">38330194</a><a href="/pmc/articles/PMC10966161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35152000">Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beerepoot S,
|
||
Wolf NI,
|
||
Wehner K,
|
||
Bender B,
|
||
van der Knaap MS,
|
||
Krägeloh-Mann I,
|
||
Groeschel S</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Mar;37:87-93.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1016/j.ejpn.2022.01.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35152000" target="_blank">35152000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21698385">Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groeschel S,
|
||
Kehrer C,
|
||
Engel C,
|
||
I Dali C,
|
||
Bley A,
|
||
Steinfeld R,
|
||
Grodd W,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2011 Oct;34(5):1095-102.
|
||
Epub 2011 Jun 23
|
||
doi: 10.1007/s10545-011-9361-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21698385" target="_blank">21698385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20596894">Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Artigalás O,
|
||
Lagranha VL,
|
||
Saraiva-Pereira ML,
|
||
Burin MG,
|
||
Lourenço CM,
|
||
van der Linden H Jr,
|
||
Santos ML,
|
||
Rosemberg S,
|
||
Steiner CE,
|
||
Kok F,
|
||
de Souza CF,
|
||
Jardim LB,
|
||
Giugliani R,
|
||
Schwartz IV</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2010 Dec;33 Suppl 3:S257-62.
|
||
Epub 2010 Jul 2
|
||
doi: 10.1007/s10545-010-9140-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20596894" target="_blank">20596894</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%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 (24)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/20038527">Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmood A,
|
||
Berry J,
|
||
Wenger DA,
|
||
Escolar M,
|
||
Sobeih M,
|
||
Raymond G,
|
||
Eichler FS</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2010 May;25(5):572-80.
|
||
Epub 2009 Dec 28
|
||
doi: 10.1177/0883073809341669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20038527" target="_blank">20038527</a><a href="/pmc/articles/PMC4301611" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metachromatic%20leukodystrophy%2C%20late%20infantile%20form%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751278%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=309256" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Metachromatic%20leukodystrophy,%20late%20infantile%20form" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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