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<!--
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||
UID=867282
|
||
ConceptID=C4021643
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Impairment of galactose metabolism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867282</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.">C4021643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Impaired galactose metabolism</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004915">HP:0004915</a></td></tr>
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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>
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||
<div class="portlet_content ln">An impairment of galactose metabolism. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</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>
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<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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Impairment of galactose metabolism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1703500" ref="tree=MeSH" title="MedGen record for Abnormal metabolism">Abnormal metabolism</a></span><ul><li><span class="matched_ds">Impairment of galactose metabolism</span><ul><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/1718159" ref="tree=MeSH" title="MedGen record for Galactosemia 4">Galactosemia 4</a></span></li><li><span class="TLline"><a href="/medgen/443018" ref="tree=MeSH" title="MedGen record for Transferase Deficiency Galactosemia">Transferase Deficiency Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/199598" ref="tree=MeSH" title="MedGen record for UDPglucose-4-epimerase deficiency">UDPglucose-4-epimerase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/657805" ref="tree=MeSH" title="MedGen record for Erythrocyte galactose epimerase deficiency">Erythrocyte galactose epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/657804" ref="tree=MeSH" title="MedGen record for Generalized galactose epimerase deficiency">Generalized galactose epimerase deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></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/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
||
Sun Y,
|
||
Xiao B,
|
||
Qiu W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808946">Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haskovic M,
|
||
Coelho AI,
|
||
Bierau J,
|
||
Vanoevelen JM,
|
||
Steinbusch LKM,
|
||
Zimmermann LJI,
|
||
Villamor-Martinez E,
|
||
Berry GT,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2020 May;43(3):392-408.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1002/jimd.12202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808946" target="_blank">31808946</a><a href="/pmc/articles/PMC7317974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4687406">Criteria for assessment of functional impairment in patients with cirrhosis of the liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bircher J,
|
||
Blankart R,
|
||
Halpern A,
|
||
Häcki W,
|
||
Laissue J,
|
||
Preisig R</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
1973 Jan;3(1):72-85.
|
||
doi: 10.1111/j.1365-2362.1973.tb00332.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4687406" target="_blank">4687406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(impairment%20of%20galactose%20metabolism)%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 (13)</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/36683009">Integrated Lipidomics and Network Pharmacology Reveal Mechanism of Memory Impairment Improvement by Yuanzhi San.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao F,
|
||
Li P,
|
||
Deng F,
|
||
Wang J,
|
||
Cheng Y,
|
||
Pei K,
|
||
Wang Y,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Chem Biodivers</span>
|
||
2023 Mar;20(3):e202200920.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1002/cbdv.202200920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36683009" target="_blank">36683009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35422763">Hypoglycaemia Metabolic Gene Panel Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Lepri FR,
|
||
Novelli A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:826167.
|
||
Epub 2022 Mar 29
|
||
doi: 10.3389/fendo.2022.826167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35422763" target="_blank">35422763</a><a href="/pmc/articles/PMC9001947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35002516">Regulation of lung epithelial cell senescence in smoking-induced COPD/emphysema by microR-125a-5p via Sp1 mediation of SIRT1/HIF-1a.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu H,
|
||
Ma H,
|
||
Wang L,
|
||
Zhang H,
|
||
Lu L,
|
||
Xiao T,
|
||
Cheng C,
|
||
Wang P,
|
||
Yang Y,
|
||
Wu M,
|
||
Wang S,
|
||
Zhang J,
|
||
Liu Q</span><br />
|
||
<span class="medgenPMjournal">Int J Biol Sci</span>
|
||
2022;18(2):661-674.
|
||
Epub 2022 Jan 1
|
||
doi: 10.7150/ijbs.65861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35002516" target="_blank">35002516</a><a href="/pmc/articles/PMC8741857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24468247">Drug allergens and food--the cetuximab and galactose-α-1,3-galactose story.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg EA,
|
||
Platts-Mills TA,
|
||
Commins SP</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
|
||
2014 Feb;112(2):97-101.
|
||
Epub 2013 Dec 21
|
||
doi: 10.1016/j.anai.2013.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24468247" target="_blank">24468247</a><a href="/pmc/articles/PMC3964477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/579516">Heparin elimination in patients with liver cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teien AN</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
1977 Oct 31;38(3):701-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/579516" target="_blank">579516</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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 (109)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35422763">Hypoglycaemia Metabolic Gene Panel Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Lepri FR,
|
||
Novelli A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:826167.
|
||
Epub 2022 Mar 29
|
||
doi: 10.3389/fendo.2022.826167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35422763" target="_blank">35422763</a><a href="/pmc/articles/PMC9001947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31219341">Diagnosis of Fungal Infections. A Systematic Review and Meta-Analysis Supporting American Thoracic Society Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haydour Q,
|
||
Hage CA,
|
||
Carmona EM,
|
||
Epelbaum O,
|
||
Evans SE,
|
||
Gabe LM,
|
||
Knox KS,
|
||
Kolls JK,
|
||
Wengenack NL,
|
||
Prokop LJ,
|
||
Limper AH,
|
||
Murad MH</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2019 Sep;16(9):1179-1188.
|
||
doi: 10.1513/AnnalsATS.201811-766OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31219341" target="_blank">31219341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28656511">Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Jul;40(4):531-542.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1007/s10545-017-0059-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28656511" target="_blank">28656511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24468247">Drug allergens and food--the cetuximab and galactose-α-1,3-galactose story.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg EA,
|
||
Platts-Mills TA,
|
||
Commins SP</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
|
||
2014 Feb;112(2):97-101.
|
||
Epub 2013 Dec 21
|
||
doi: 10.1016/j.anai.2013.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24468247" target="_blank">24468247</a><a href="/pmc/articles/PMC3964477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18762933">Pharmacokinetics and dosage adjustment in patients with hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbeeck RK</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
|
||
2008 Dec;64(12):1147-61.
|
||
Epub 2008 Sep 2
|
||
doi: 10.1007/s00228-008-0553-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18762933" target="_blank">18762933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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 (102)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35002516">Regulation of lung epithelial cell senescence in smoking-induced COPD/emphysema by microR-125a-5p via Sp1 mediation of SIRT1/HIF-1a.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu H,
|
||
Ma H,
|
||
Wang L,
|
||
Zhang H,
|
||
Lu L,
|
||
Xiao T,
|
||
Cheng C,
|
||
Wang P,
|
||
Yang Y,
|
||
Wu M,
|
||
Wang S,
|
||
Zhang J,
|
||
Liu Q</span><br />
|
||
<span class="medgenPMjournal">Int J Biol Sci</span>
|
||
2022;18(2):661-674.
|
||
Epub 2022 Jan 1
|
||
doi: 10.7150/ijbs.65861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35002516" target="_blank">35002516</a><a href="/pmc/articles/PMC8741857" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28656511">Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maiorana A,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Jul;40(4):531-542.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1007/s10545-017-0059-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28656511" target="_blank">28656511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24468247">Drug allergens and food--the cetuximab and galactose-α-1,3-galactose story.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg EA,
|
||
Platts-Mills TA,
|
||
Commins SP</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy Asthma Immunol</span>
|
||
2014 Feb;112(2):97-101.
|
||
Epub 2013 Dec 21
|
||
doi: 10.1016/j.anai.2013.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24468247" target="_blank">24468247</a><a href="/pmc/articles/PMC3964477" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18762933">Pharmacokinetics and dosage adjustment in patients with hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbeeck RK</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
|
||
2008 Dec;64(12):1147-61.
|
||
Epub 2008 Sep 2
|
||
doi: 10.1007/s00228-008-0553-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18762933" target="_blank">18762933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7433926">Liver function during treatment with cefuroxime.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwarson S,
|
||
Martinell J,
|
||
Trollfors B</span><br />
|
||
<span class="medgenPMjournal">Scand J Infect Dis</span>
|
||
1980;12(3):239-40.
|
||
doi: 10.3109/inf.1980.12.issue-3.16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7433926" target="_blank">7433926</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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 (78)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38791098">The Role of microRNA in the Regulation of Cortisol Metabolism in the Adipose Tissue in the Course of Obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Podraza J,
|
||
Gutowska K,
|
||
Lenartowicz A,
|
||
Wąsowski M,
|
||
Jonas MI,
|
||
Bartoszewicz Z,
|
||
Lisik W,
|
||
Jonas M,
|
||
Binda A,
|
||
Jaworski P,
|
||
Tarnowski W,
|
||
Noszczyk B,
|
||
Puzianowska-Kuźnicka M,
|
||
Kuryłowicz A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 May 7;25(10)
|
||
doi: 10.3390/ijms25105058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38791098" target="_blank">38791098</a><a href="/pmc/articles/PMC11120731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34641605">Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdino A,
|
||
D'Urso G,
|
||
Tammone C,
|
||
Scafuri B,
|
||
Catapano L,
|
||
Marabotti A</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2021 Oct 7;26(19)
|
||
doi: 10.3390/molecules26196061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34641605" target="_blank">34641605</a><a href="/pmc/articles/PMC8513022" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34439897">Metformin and Cancer Glucose Metabolism: At the Bench or at the Bedside?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marini C,
|
||
Cossu V,
|
||
Bauckneht M,
|
||
Lanfranchi F,
|
||
Raffa S,
|
||
Orengo AM,
|
||
Ravera S,
|
||
Bruno S,
|
||
Sambuceti G</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Aug 18;11(8)
|
||
doi: 10.3390/biom11081231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34439897" target="_blank">34439897</a><a href="/pmc/articles/PMC8392176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27638608">Substrate reduction therapy for Krabbe's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sands SA,
|
||
LeVine SM</span><br />
|
||
<span class="medgenPMjournal">J Neurosci Res</span>
|
||
2016 Nov;94(11):1261-72.
|
||
doi: 10.1002/jnr.23791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27638608" target="_blank">27638608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18762933">Pharmacokinetics and dosage adjustment in patients with hepatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbeeck RK</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
|
||
2008 Dec;64(12):1147-61.
|
||
Epub 2008 Sep 2
|
||
doi: 10.1007/s00228-008-0553-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18762933" target="_blank">18762933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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 (54)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38365697">Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du T,
|
||
Xia Y,
|
||
Sun C,
|
||
Gong Z,
|
||
Liang L,
|
||
Gong Z,
|
||
Wang R,
|
||
Lu D,
|
||
Zhang K,
|
||
Yang Y,
|
||
Sun Y,
|
||
Sun M,
|
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Sun Y,
|
||
Xiao B,
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Qiu W</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Feb 16;19(1):75.
|
||
doi: 10.1186/s13023-024-03070-8.
|
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<span class="bold">PMID: </span><a href="/pubmed/38365697" target="_blank">38365697</a><a href="/pmc/articles/PMC10874070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu TJ,
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Wang SH,
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Chen ES,
|
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Tsai HH,
|
||
Chang YC,
|
||
Tseng YH,
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Yu J</span><br />
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<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2022 Jun 7;79(7):348.
|
||
doi: 10.1007/s00018-022-04381-4.
|
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<span class="bold">PMID: </span><a href="/pubmed/35670884" target="_blank">35670884</a><a href="/pmc/articles/PMC9174126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34439897">Metformin and Cancer Glucose Metabolism: At the Bench or at the Bedside?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Marini C,
|
||
Cossu V,
|
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Bauckneht M,
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Lanfranchi F,
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Raffa S,
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Orengo AM,
|
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Ravera S,
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Bruno S,
|
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Sambuceti G</span><br />
|
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<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Aug 18;11(8)
|
||
doi: 10.3390/biom11081231.
|
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<span class="bold">PMID: </span><a href="/pubmed/34439897" target="_blank">34439897</a><a href="/pmc/articles/PMC8392176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34045482">A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kishita Y,
|
||
Ishikawa K,
|
||
Nakada K,
|
||
Hayashi JI,
|
||
Fushimi T,
|
||
Shimura M,
|
||
Kohda M,
|
||
Ohtake A,
|
||
Murayama K,
|
||
Okazaki Y</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 May 27;11(1):11123.
|
||
doi: 10.1038/s41598-021-90196-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34045482" target="_blank">34045482</a><a href="/pmc/articles/PMC8160132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/18762933">Pharmacokinetics and dosage adjustment in patients with hepatic dysfunction.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Verbeeck RK</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
|
||
2008 Dec;64(12):1147-61.
|
||
Epub 2008 Sep 2
|
||
doi: 10.1007/s00228-008-0553-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18762933" target="_blank">18762933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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 (128)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/31808946">Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haskovic M,
|
||
Coelho AI,
|
||
Bierau J,
|
||
Vanoevelen JM,
|
||
Steinbusch LKM,
|
||
Zimmermann LJI,
|
||
Villamor-Martinez E,
|
||
Berry GT,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2020 May;43(3):392-408.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1002/jimd.12202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808946" target="_blank">31808946</a><a href="/pmc/articles/PMC7317974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31627760">Cognitive functioning in patients with classical galactosemia: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hermans ME,
|
||
Welsink-Karssies MM,
|
||
Bosch AM,
|
||
Oostrom KJ,
|
||
Geurtsen GJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Oct 18;14(1):226.
|
||
doi: 10.1186/s13023-019-1215-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31627760" target="_blank">31627760</a><a href="/pmc/articles/PMC6798502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31219341">Diagnosis of Fungal Infections. A Systematic Review and Meta-Analysis Supporting American Thoracic Society Practice Guideline.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Haydour Q,
|
||
Hage CA,
|
||
Carmona EM,
|
||
Epelbaum O,
|
||
Evans SE,
|
||
Gabe LM,
|
||
Knox KS,
|
||
Kolls JK,
|
||
Wengenack NL,
|
||
Prokop LJ,
|
||
Limper AH,
|
||
Murad MH</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2019 Sep;16(9):1179-1188.
|
||
doi: 10.1513/AnnalsATS.201811-766OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31219341" target="_blank">31219341</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impairment%20of%20galactose%20metabolism%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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