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|
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<!--
|
||
UID=853856
|
||
ConceptID=C2874270
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gm2-gangliosidosis, adult</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853856</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:">C2874270</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>GM2-GANGLIOSIDOSIS, ADULT</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606869" target="_blank">606869</a></td></tr>
|
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</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_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/37209042">Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri V,
|
||
Tavasoli AR,
|
||
Khodarahmi M,
|
||
Dakkali MS,
|
||
Daneshfar S,
|
||
Ashrafi MR,
|
||
Heidari M,
|
||
Hosseinpour S,
|
||
Sharifianjazi F,
|
||
Bemanalizadeh M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Sep;30(9):2919-2945.
|
||
Epub 2023 Jun 8
|
||
doi: 10.1111/ene.15871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37209042" target="_blank">37209042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15366363">Population-based carrier screening and prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strom CM</span><br />
|
||
<span class="medgenPMjournal">MLO Med Lab Obs</span>
|
||
2004 Aug;36(8):12-7; quiz 20-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15366363" target="_blank">15366363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6761024">The prenatal diagnosis of genetic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson JL,
|
||
Verp MS</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1982 Dec;25(4):635-58.
|
||
doi: 10.1097/00003081-198212000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6761024" target="_blank">6761024</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(gm2-gangliosidosis%2C%20adult)%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 (24)</a></div></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/37209042">Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri V,
|
||
Tavasoli AR,
|
||
Khodarahmi M,
|
||
Dakkali MS,
|
||
Daneshfar S,
|
||
Ashrafi MR,
|
||
Heidari M,
|
||
Hosseinpour S,
|
||
Sharifianjazi F,
|
||
Bemanalizadeh M</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2023 Sep;30(9):2919-2945.
|
||
Epub 2023 Jun 8
|
||
doi: 10.1111/ene.15871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37209042" target="_blank">37209042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15667031">Genetic testing: practical, ethical, and counseling considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ensenauer RE,
|
||
Michels VV,
|
||
Reinke SS</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
2005 Jan;80(1):63-73.
|
||
doi: 10.1016/S0025-6196(11)62960-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15667031" target="_blank">15667031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6392204">The Health Belief Model: a decade later.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janz NK,
|
||
Becker MH</span><br />
|
||
<span class="medgenPMjournal">Health Educ Q</span>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gm2-gangliosidosis%2C%20adult%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38165373">Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37209042">Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri V,
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Tavasoli AR,
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Khodarahmi M,
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Dakkali MS,
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Daneshfar S,
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Ashrafi MR,
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Heidari M,
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Hosseinpour S,
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Sharifianjazi F,
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<span class="bold">PMID: </span><a href="/pubmed/37209042" target="_blank">37209042</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gm2-gangliosidosis%2C%20adult%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 (59)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37209042">Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri V,
|
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Tavasoli AR,
|
||
Khodarahmi M,
|
||
Dakkali MS,
|
||
Daneshfar S,
|
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Ashrafi MR,
|
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Heidari M,
|
||
Hosseinpour S,
|
||
Sharifianjazi F,
|
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Bemanalizadeh M</span><br />
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<span class="medgenPMjournal">Eur J Neurol</span>
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2023 Sep;30(9):2919-2945.
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Epub 2023 Jun 8
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doi: 10.1111/ene.15871.
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<span class="bold">PMID: </span><a href="/pubmed/37209042" target="_blank">37209042</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30726573">Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.</a></div>
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Shulman JM,
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|
||
Epub 2014 Jun 13
|
||
doi: 10.1111/jpc.12632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24923490" target="_blank">24923490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gm2-gangliosidosis%2C%20adult%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 (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2874270%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C2874270%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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