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<meta name="keywords" content="C0751490, disease or syndrome, hexosaminidases a and b deficiency, infantile form, infantile gm2 gangliosidosis 0 variant, infantile sandhoff disease, sandhoff disease, infantile, sandhoff disease, infantile form, sandhoff disease, infantile type, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=199669
|
||
ConceptID=C0751490
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sandhoff disease, infantile form</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199669</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:">C0751490</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>Sandhoff disease, infantile type</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017721" target="_blank">MONDO:0017721</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/268800" target="_blank">268800</a>; <a href="https://omim.org/entry/606873" target="_blank">606873</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=309155">ORPHA309155</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_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><li><a href="#tabORDO">Orphanet</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=199669" target="_blank" href="/omim/268800">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=199669" ref="ncbi_uid=199669">V</a></span></span><span class="TLline">Sandhoff disease, 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/1825994" ref="tree=MeSH" title="MedGen record for Cerebral lipidosis with dementia">Cerebral lipidosis with dementia</a></span><ul><li><span class="TLline"><a href="/medgen/11313" ref="tree=MeSH" title="MedGen record for Sandhoff disease">Sandhoff disease</a></span><ul><li><span class="matched_ds">Sandhoff disease, infantile form</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21353&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Sandhoff disease, infantile form</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/34530708">Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osmon KJ,
|
||
Thompson P,
|
||
Woodley E,
|
||
Karumuthil-Melethil S,
|
||
Heindel C,
|
||
Keimel JG,
|
||
Kaemmerer WF,
|
||
Gray SJ,
|
||
Walia JS</span><br />
|
||
<span class="medgenPMjournal">Curr Gene Ther</span>
|
||
2022;22(3):262-276.
|
||
doi: 10.2174/1566523221666210916153051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34530708" target="_blank">34530708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3809110">Prenatal diagnosis of infantile GM 2 gangliosidosis type II (Sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warner TG,
|
||
Turner MW,
|
||
Toone JR,
|
||
Applegarth D</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1986 Nov-Dec;6(6):393-400.
|
||
doi: 10.1002/pd.1970060602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3809110" target="_blank">3809110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sandhoff%20disease%2C%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 (2)</a></div></div>
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|
||
<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/32295606">Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lyn N,
|
||
Pulikottil-Jacob R,
|
||
Rochmann C,
|
||
Krupnick R,
|
||
Gwaltney C,
|
||
Stephens N,
|
||
Kissell J,
|
||
Cox GF,
|
||
Fischer T,
|
||
Hamed A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 15;15(1):92.
|
||
doi: 10.1186/s13023-020-01354-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32295606" target="_blank">32295606</a><a href="/pmc/articles/PMC7160997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28007910">Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hooper AWM,
|
||
Alamilla JF,
|
||
Venier RE,
|
||
Gillespie DC,
|
||
Igdoura SA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2017 Feb 15;26(4):661-673.
|
||
doi: 10.1093/hmg/ddw422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28007910" target="_blank">28007910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16854371">Sphingolipid metabolism diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolter T,
|
||
Sandhoff K</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2006 Dec;1758(12):2057-79.
|
||
Epub 2006 Jun 14
|
||
doi: 10.1016/j.bbamem.2006.05.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16854371" target="_blank">16854371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8821335">Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haltia M,
|
||
Tyynelä J,
|
||
Baumann M,
|
||
Henseler M,
|
||
Sandhoff K</span><br />
|
||
<span class="medgenPMjournal">Gerontology</span>
|
||
1995;41 Suppl 2:239-48.
|
||
doi: 10.1159/000213746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8821335" target="_blank">8821335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7468596">Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Der Kaloustian VM,
|
||
Khoury MJ,
|
||
Hallal R,
|
||
Idriss ZH,
|
||
Deeb ME,
|
||
Wakid NW,
|
||
Haddad FS</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1981 Jan;33(1):85-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7468596" target="_blank">7468596</a><a href="/pmc/articles/PMC1684873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sandhoff%20disease%2C%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37344817">Clinical and genetic features of a case with juvenile onset sandhoff disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yin JH,
|
||
Hu WZ,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2023 Jun 21;23(1):240.
|
||
doi: 10.1186/s12883-023-03267-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37344817" target="_blank">37344817</a><a href="/pmc/articles/PMC10286434" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34210542">Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alonso-Pérez J,
|
||
Casasús A,
|
||
Gimenez-Muñoz Á,
|
||
Duff J,
|
||
Rojas-Garcia R,
|
||
Illa I,
|
||
Straub V,
|
||
Töpf A,
|
||
Díaz-Manera J</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Aug;31(8):769-772.
|
||
Epub 2021 May 27
|
||
doi: 10.1016/j.nmd.2021.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34210542" target="_blank">34210542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32475856">Development of Specific Fluorogenic Substrates for Human β-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miura K,
|
||
Aoyama Y,
|
||
Natsu Y,
|
||
Koyama R,
|
||
Hirano T,
|
||
Nishio T,
|
||
Hakamata W</span><br />
|
||
<span class="medgenPMjournal">Chem Pharm Bull (Tokyo)</span>
|
||
2020;68(6):526-533.
|
||
doi: 10.1248/cpb.c20-00069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32475856" target="_blank">32475856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16434676">Substrate reduction therapy in the infantile form of Tay-Sachs disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bembi B,
|
||
Marchetti F,
|
||
Guerci VI,
|
||
Ciana G,
|
||
Addobbati R,
|
||
Grasso D,
|
||
Barone R,
|
||
Cariati R,
|
||
Fernandez-Guillen L,
|
||
Butters T,
|
||
Pittis MG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Jan 24;66(2):278-80.
|
||
doi: 10.1212/01.wnl.0000194225.78917.de.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16434676" target="_blank">16434676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7468596">Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Der Kaloustian VM,
|
||
Khoury MJ,
|
||
Hallal R,
|
||
Idriss ZH,
|
||
Deeb ME,
|
||
Wakid NW,
|
||
Haddad FS</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1981 Jan;33(1):85-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7468596" target="_blank">7468596</a><a href="/pmc/articles/PMC1684873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sandhoff%20disease%2C%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 (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23046579">Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaignard P,
|
||
Fagart J,
|
||
Niemir N,
|
||
Puech JP,
|
||
Azouguene E,
|
||
Dussau J,
|
||
Caillaud C</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 10;512(2):521-6.
|
||
Epub 2012 Oct 6
|
||
doi: 10.1016/j.gene.2012.09.124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23046579" target="_blank">23046579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16434676">Substrate reduction therapy in the infantile form of Tay-Sachs disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bembi B,
|
||
Marchetti F,
|
||
Guerci VI,
|
||
Ciana G,
|
||
Addobbati R,
|
||
Grasso D,
|
||
Barone R,
|
||
Cariati R,
|
||
Fernandez-Guillen L,
|
||
Butters T,
|
||
Pittis MG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Jan 24;66(2):278-80.
|
||
doi: 10.1212/01.wnl.0000194225.78917.de.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16434676" target="_blank">16434676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10982028">Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drousiotou A,
|
||
Stylianidou G,
|
||
Anastasiadou V,
|
||
Christopoulos G,
|
||
Mavrikiou E,
|
||
Georgiou T,
|
||
Kalakoutis G,
|
||
Oladimeji A,
|
||
Hara Y,
|
||
Suzuki K,
|
||
Furihata K,
|
||
Ueno I,
|
||
Ioannou PA,
|
||
Fensom AH</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2000 Jul;107(1):12-7.
|
||
doi: 10.1007/s004390000324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10982028" target="_blank">10982028</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10829909">GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christopher R,
|
||
Rangaswamy GR,
|
||
Shetty KT</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1995 Jul-Aug;62(4):479-83.
|
||
doi: 10.1007/BF02755071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10829909" target="_blank">10829909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3886595">The lysosomal hexosaminidase isozymes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahuran D,
|
||
Novak A,
|
||
Lowden JA</span><br />
|
||
<span class="medgenPMjournal">Isozymes Curr Top Biol Med Res</span>
|
||
1985;12:229-88.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3886595" target="_blank">3886595</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sandhoff%20disease%2C%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33819415">Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">İnci A,
|
||
Cengiz Ergin FB,
|
||
Biberoğlu G,
|
||
Okur İ,
|
||
Ezgü FS,
|
||
Tümer L</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Jun 25;34(6):805-812.
|
||
Epub 2021 Apr 6
|
||
doi: 10.1515/jpem-2020-0655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33819415" target="_blank">33819415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32295606">Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lyn N,
|
||
Pulikottil-Jacob R,
|
||
Rochmann C,
|
||
Krupnick R,
|
||
Gwaltney C,
|
||
Stephens N,
|
||
Kissell J,
|
||
Cox GF,
|
||
Fischer T,
|
||
Hamed A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 15;15(1):92.
|
||
doi: 10.1186/s13023-020-01354-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32295606" target="_blank">32295606</a><a href="/pmc/articles/PMC7160997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9728335">Glycosphingolipid degradation and animal models of GM2-gangliosidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolter T,
|
||
Sandhoff K</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1998 Aug;21(5):548-63.
|
||
doi: 10.1023/a:1005419122018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9728335" target="_blank">9728335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9435988">Biochemistry of glycosphingolipid degradation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandhoff K,
|
||
Kolter T</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
1997 Oct 9;266(1):51-61.
|
||
doi: 10.1016/s0009-8981(97)00166-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9435988" target="_blank">9435988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24820">An atypical form of Sandhoff's disease. Case report and biochemical studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felding I,
|
||
Hultberg B</span><br />
|
||
<span class="medgenPMjournal">Neuropadiatrie</span>
|
||
1978 Feb;9(1):74-83.
|
||
doi: 10.1055/s-0028-1085411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24820" target="_blank">24820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sandhoff%20disease%2C%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34530708">Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osmon KJ,
|
||
Thompson P,
|
||
Woodley E,
|
||
Karumuthil-Melethil S,
|
||
Heindel C,
|
||
Keimel JG,
|
||
Kaemmerer WF,
|
||
Gray SJ,
|
||
Walia JS</span><br />
|
||
<span class="medgenPMjournal">Curr Gene Ther</span>
|
||
2022;22(3):262-276.
|
||
doi: 10.2174/1566523221666210916153051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34530708" target="_blank">34530708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34856081">Atypical presentation of late-onset Sandhoff disease: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salamon A,
|
||
Szpisjak L,
|
||
Zádori D,
|
||
Lénárt I,
|
||
Maróti Z,
|
||
Kalmár T,
|
||
Brierley CMH,
|
||
Deegan PB,
|
||
Klivényi P</span><br />
|
||
<span class="medgenPMjournal">Ideggyogy Sz</span>
|
||
2021 Nov 30;74(11-12):425-429.
|
||
doi: 10.18071/isz.74.0425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34856081" target="_blank">34856081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28007910">Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hooper AWM,
|
||
Alamilla JF,
|
||
Venier RE,
|
||
Gillespie DC,
|
||
Igdoura SA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2017 Feb 15;26(4):661-673.
|
||
doi: 10.1093/hmg/ddw422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28007910" target="_blank">28007910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16434676">Substrate reduction therapy in the infantile form of Tay-Sachs disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bembi B,
|
||
Marchetti F,
|
||
Guerci VI,
|
||
Ciana G,
|
||
Addobbati R,
|
||
Grasso D,
|
||
Barone R,
|
||
Cariati R,
|
||
Fernandez-Guillen L,
|
||
Butters T,
|
||
Pittis MG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Jan 24;66(2):278-80.
|
||
doi: 10.1212/01.wnl.0000194225.78917.de.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16434676" target="_blank">16434676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2019586">Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holtschmidt H,
|
||
Sandhoff K,
|
||
Kwon HY,
|
||
Harzer K,
|
||
Nakano T,
|
||
Suzuki K</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
1991 Apr 25;266(12):7556-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2019586" target="_blank">2019586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sandhoff%20disease%2C%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 (19)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751490%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751490%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751490%5bDISCUI%5d" target="_blank">See all (1)</a></total></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=309155" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Sandhoff%20disease,%20infantile%20form" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(sandhoff%20disease%2C%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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