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<meta name="keywords" content="C2931345, disease or syndrome, g6p translocase deficiency, glucose-6-phosphate translocase deficiency, glycogen storage disease i caused by mutation in slc37a4, glycogen storage disease type 1 due to slc37a4 mutation, slc37a4 glycogen storage disease i, 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="Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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|
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<!--
|
||
UID=419390
|
||
ConceptID=C2931345
|
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-->
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glycogen storage disease type 1 due to SLC37A4 mutation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419390</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:">C2931345</span></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>G6P translocase deficiency; Glucose-6-phosphate translocase deficiency</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0023258" target="_blank">MONDO:0023258</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</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/31536830">Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarajlija A,
|
||
Djordjevic M,
|
||
Kecman B,
|
||
Skakic A,
|
||
Pavlovic S,
|
||
Pasic S,
|
||
Stojiljkovic M</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2020 Mar;63(3):103767.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1016/j.ejmg.2019.103767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31536830" target="_blank">31536830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15906092">Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melis D,
|
||
Fulceri R,
|
||
Parenti G,
|
||
Marcolongo P,
|
||
Gatti R,
|
||
Parini R,
|
||
Riva E,
|
||
Della Casa R,
|
||
Zammarchi E,
|
||
Andria G,
|
||
Benedetti A</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2005 Aug;164(8):501-8.
|
||
Epub 2005 May 19
|
||
doi: 10.1007/s00431-005-1657-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15906092" target="_blank">15906092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12373566">Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
|
||
Seydewitz HH,
|
||
Bali D,
|
||
Lang C,
|
||
Chen YT</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2002 Oct;161 Suppl 1:S10-9.
|
||
Epub 2002 Jul 27
|
||
doi: 10.1007/s00431-002-0998-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12373566" target="_blank">12373566</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glycogen%20storage%20disease%20type%201%20due%20to%20slc37a4%20mutation)%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 (7)</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/38622211">Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Z,
|
||
Zhang X,
|
||
Chen H,
|
||
Zeng H,
|
||
Wu J,
|
||
Wang Y,
|
||
Ma N,
|
||
Lan J,
|
||
Zhang Y,
|
||
Niu H,
|
||
Shang L,
|
||
Jiang X,
|
||
Yang M</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Apr 15;14(1):8630.
|
||
doi: 10.1038/s41598-024-59320-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38622211" target="_blank">38622211</a><a href="/pmc/articles/PMC11018849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29435782">Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
|
||
Ruoppolo M,
|
||
Formisano P,
|
||
Villani G,
|
||
Albano L,
|
||
Gallo G,
|
||
Crisci D,
|
||
Moccia A,
|
||
Parenti G,
|
||
Strisciuglio P,
|
||
Melis D</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2018 Nov;41(6):985-995.
|
||
Epub 2018 Feb 12
|
||
doi: 10.1007/s10545-018-0149-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29435782" target="_blank">29435782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21599942">Glucose-6-phosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Froissart R,
|
||
Piraud M,
|
||
Boudjemline AM,
|
||
Vianey-Saban C,
|
||
Petit F,
|
||
Hubert-Buron A,
|
||
Eberschweiler PT,
|
||
Gajdos V,
|
||
Labrune P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 May 20;6:27.
|
||
doi: 10.1186/1750-1172-6-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21599942" target="_blank">21599942</a><a href="/pmc/articles/PMC3118311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11386847">Molecular genetics of type 1 glycogen storage disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janecke AR,
|
||
Mayatepek E,
|
||
Utermann G</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2001 Jun;73(2):117-25.
|
||
doi: 10.1006/mgme.2001.3179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11386847" target="_blank">11386847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10834514">How many forms of glycogen storage disease type I?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veiga-da-Cunha M,
|
||
Gerin I,
|
||
Van Schaftingen E</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2000 May;159(5):314-8.
|
||
doi: 10.1007/s004310051279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10834514" target="_blank">10834514</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%201%20due%20to%20SLC37A4%20mutation%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 (17)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38087503">Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Zhao R,
|
||
Jia X,
|
||
Li X,
|
||
Ma L,
|
||
Fu H</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Dec;51(12):3000605231216633.
|
||
doi: 10.1177/03000605231216633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38087503" target="_blank">38087503</a><a href="/pmc/articles/PMC10718061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34989216">Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed S,
|
||
Akbar F,
|
||
Ali AJ,
|
||
Afroze B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Mar 28;35(3):373-385.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1515/jpem-2021-0575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34989216" target="_blank">34989216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28224773">Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi R,
|
||
Park HD,
|
||
Ko JM,
|
||
Lee J,
|
||
Lee DH,
|
||
Hong SJ,
|
||
Ki CS,
|
||
Lee SY,
|
||
Kim JW,
|
||
Song J,
|
||
Choe YH</span><br />
|
||
<span class="medgenPMjournal">Ann Lab Med</span>
|
||
2017 May;37(3):261-266.
|
||
doi: 10.3343/alm.2017.37.3.261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28224773" target="_blank">28224773</a><a href="/pmc/articles/PMC5339099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21599942">Glucose-6-phosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Froissart R,
|
||
Piraud M,
|
||
Boudjemline AM,
|
||
Vianey-Saban C,
|
||
Petit F,
|
||
Hubert-Buron A,
|
||
Eberschweiler PT,
|
||
Gajdos V,
|
||
Labrune P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 May 20;6:27.
|
||
doi: 10.1186/1750-1172-6-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21599942" target="_blank">21599942</a><a href="/pmc/articles/PMC3118311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10834514">How many forms of glycogen storage disease type I?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veiga-da-Cunha M,
|
||
Gerin I,
|
||
Van Schaftingen E</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
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2000 May;159(5):314-8.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%201%20due%20to%20SLC37A4%20mutation%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 (31)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38622211">Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Z,
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Zhang X,
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Chen H,
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Zeng H,
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Wu J,
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Wang Y,
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Ma N,
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Lan J,
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Zhang Y,
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Shang L,
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<div class="nl"><a target="_blank" href="/pubmed/38605407">Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shao YX,
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Liang CL,
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Su YY,
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Lin YT,
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Lu ZK,
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Lin RZ,
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Zhou ZZ,
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Zeng CH,
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Tao CY,
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Liu ZC,
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Zhang W,
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Liu L</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/38605407" target="_blank">38605407</a><a href="/pmc/articles/PMC11010294" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35506446">Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boulanger C,
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Stephenne X,
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Diederich J,
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Mounkoro P,
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Chevalier N,
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<span class="bold">PMID: </span><a href="/pubmed/35506446" target="_blank">35506446</a><a href="/pmc/articles/PMC9540799" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31617422">Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
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<span class="bold">PMID: </span><a href="/pubmed/31617422" target="_blank">31617422</a><a href="/pmc/articles/PMC7045669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25804016">Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Oguz MM,
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Aykan E,
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Yilmaz G,
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Aytekin C,
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Karaer K,
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<div class="nl"><a target="_blank" href="/pubmed/38605407">Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shao YX,
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Liang CL,
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Su YY,
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Lin YT,
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Lu ZK,
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Lin RZ,
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Zhou ZZ,
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Zeng CH,
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Tao CY,
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Liu ZC,
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Zhang W,
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Liu L</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2024 Apr 11;19(1):155.
|
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doi: 10.1186/s13023-024-03137-6.
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<span class="bold">PMID: </span><a href="/pubmed/38605407" target="_blank">38605407</a><a href="/pmc/articles/PMC11010294" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32005221">Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eghbali M,
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Abiri M,
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Talebi S,
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Noroozi Z,
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Shakiba M,
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Rostami P,
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Alimadadi H,
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Najafi M,
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Yazarlou F,
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Rabbani A,
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2020 Jan 31;15(1):35.
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<span class="bold">PMID: </span><a href="/pubmed/32005221" target="_blank">32005221</a><a href="/pmc/articles/PMC6995048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31536830">Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.</a></div>
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Djordjevic M,
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<span class="bold">PMID: </span><a href="/pubmed/31536830" target="_blank">31536830</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21599942">Glucose-6-phosphatase deficiency.</a></div>
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Piraud M,
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Boudjemline AM,
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|
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<div class="nl"><a target="_blank" href="/pubmed/10712583">New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van de Werve G,
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Lange A,
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Newgard C,
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Méchin MC,
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Li Y,
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<span class="bold">PMID: </span><a href="/pubmed/10712583" target="_blank">10712583</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%201%20due%20to%20SLC37A4%20mutation%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38622211">Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Z,
|
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Zhang X,
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Chen H,
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Zeng H,
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Wu J,
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Wang Y,
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Ma N,
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Lan J,
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Zhang Y,
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Niu H,
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Shang L,
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Jiang X,
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Yang M</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2024 Apr 15;14(1):8630.
|
||
doi: 10.1038/s41598-024-59320-z.
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||
<span class="bold">PMID: </span><a href="/pubmed/38622211" target="_blank">38622211</a><a href="/pmc/articles/PMC11018849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32005221">Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eghbali M,
|
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Abiri M,
|
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Talebi S,
|
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Noroozi Z,
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Shakiba M,
|
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Rostami P,
|
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Alimadadi H,
|
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Najafi M,
|
||
Yazarlou F,
|
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Rabbani A,
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Modarressi MH</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2020 Jan 31;15(1):35.
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<span class="bold">PMID: </span><a href="/pubmed/32005221" target="_blank">32005221</a><a href="/pmc/articles/PMC6995048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16435186">Mutation spectrum of type I glycogen storage disease in Hungary.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miltenberger-Miltenyi G,
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Szonyi L,
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Balogh L,
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Utermann G,
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<div class="nl"><a target="_blank" href="/pubmed/11015710">Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lam CW,
|
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Sin SY,
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Lau ET,
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Lam YY,
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Tong SF</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/11015710" target="_blank">11015710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10712583">New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van de Werve G,
|
||
Lange A,
|
||
Newgard C,
|
||
Méchin MC,
|
||
Li Y,
|
||
Berteloot A</span><br />
|
||
<span class="medgenPMjournal">Eur J Biochem</span>
|
||
2000 Mar;267(6):1533-49.
|
||
doi: 10.1046/j.1432-1327.2000.01160.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10712583" target="_blank">10712583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glycogen%20storage%20disease%20type%201%20due%20to%20SLC37A4%20mutation%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 (10)</a></div></div>
|
||
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|
||
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|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
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|
||
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||
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|
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|
||
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|
||
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|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Glycogen%20storage%20disease%20type%201%20due%20to%20SLC37A4%20mutation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
||
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|
||
<div class="portlet brieflink">
|
||
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||
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|
||
<h3>Related information</h3>
|
||
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|
||
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|
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||
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|
||
<li class="brieflinkpopper">
|
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|
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=419390" ref="log$=recordlinks">PMC Articles</a>
|
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|
||
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=419390" ref="log$=recordlinks">PubMed</a>
|
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|
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|
||
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|
||
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|
||
|
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Clear
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Turn Off
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Turn On
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d044c684f3725e59448275">Glycogen storage disease type 1 due to SLC37A4 mutation</a>
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<div class="ralinkpop offscreen_noflow">Glycogen storage disease type 1 due to SLC37A4 mutation<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<li class="ra_qry two_line">
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<div class="tertiary">MedGen</div>
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<li class="ra_qry two_line">
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<div class="tertiary">ClinVar</div>
|
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</li>
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<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d044c2b15b832ebc28c3e3">C3278156[trait identifier] AND "DASA"[submitter] <span class="number">(1)</span></a>
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<div class="tertiary">ClinVar</div>
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d044c1a68b6b5afc7e6a6b">C5193032[trait identifier] AND "DASA"[submitter] <span class="number">(1)</span></a>
|
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<div class="tertiary">ClinVar</div>
|
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|
||
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</p>
|
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<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
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|
||
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|
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|
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|
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