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<!--
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UID=163651
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ConceptID=C0860204
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cholestatic liver disease</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163651</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.">C0860204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002611">HP:0002611</a></td></tr>
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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="TLline">Cholestatic liver disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/893061" ref="tree=MeSH" title="MedGen record for Abnormality of the liver">Abnormality of the liver</a></span><ul><li><span class="TLline"><a href="/medgen/184895" ref="tree=MeSH" title="MedGen record for Abnormality of the biliary system">Abnormality of the biliary system</a></span><ul><li><span class="TLline"><a href="/medgen/925" ref="tree=MeSH" title="MedGen record for Cholestasis">Cholestasis</a></span><ul><li><span class="matched_ds">Cholestatic liver disease</span><ul><li><span class="TLline"><a href="/medgen/347083" ref="tree=MeSH" title="MedGen record for Neonatal cholestatic liver disease">Neonatal cholestatic liver disease</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</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:">C0175694</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341844"><div><strong>Alagille syndrome due to a NOTCH2 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341844</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.">C1857761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347219"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347219</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.">C1859722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355562"><div><strong>Nephropathy, progressive tubulointerstitial, with cholestatic liver disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355562</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.">C1865831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355562">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462022"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462022</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.">C3150672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906792"><div><strong>CCDC115-CDG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906792</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.">C4225191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For a general discussion of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906792">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778117"><div><strong>Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778117</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.">C5543623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021). For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778117">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803642"><div><strong>Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803642</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.">C5676977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803642">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a NOTCH2 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CCDC115-CDG</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathy, progressive tubulointerstitial, with cholestatic liver disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></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/38250951">Primary Sclerosing Cholangitis: Diagnostic Criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzagon N,
|
||
Sarcognato S,
|
||
Catanzaro E,
|
||
Bonaiuto E,
|
||
Peviani M,
|
||
Pezzato F,
|
||
Motta R</span><br />
|
||
<span class="medgenPMjournal">Tomography</span>
|
||
2024 Jan 7;10(1):47-65.
|
||
doi: 10.3390/tomography10010005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38250951" target="_blank">38250951</a><a href="/pmc/articles/PMC10820917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37584849">Management of adults with Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayoub MD,
|
||
Bakhsh AA,
|
||
Vandriel SM,
|
||
Keitel V,
|
||
Kamath BM</span><br />
|
||
<span class="medgenPMjournal">Hepatol Int</span>
|
||
2023 Oct;17(5):1098-1112.
|
||
Epub 2023 Aug 16
|
||
doi: 10.1007/s12072-023-10578-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37584849" target="_blank">37584849</a><a href="/pmc/articles/PMC10522532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427765">EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Jul;67(1):145-172.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427765" target="_blank">28427765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cholestatic%20liver%20disease%22%5Btiab%3A~0%5D)%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 (161)</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/37084929">Recent Advances in the Management of Primary Sclerosing Cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assis DN,
|
||
Bowlus CL</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2023 Jul;21(8):2065-2075.
|
||
Epub 2023 Apr 19
|
||
doi: 10.1016/j.cgh.2023.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37084929" target="_blank">37084929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34028753">Mouse Models of Liver Fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravichandra A,
|
||
Schwabe RF</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2021;2299:339-356.
|
||
doi: 10.1007/978-1-0716-1382-5_23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34028753" target="_blank">34028753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29452711">Primary sclerosing cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dyson JK,
|
||
Beuers U,
|
||
Jones DEJ,
|
||
Lohse AW,
|
||
Hudson M</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2018 Jun 23;391(10139):2547-2559.
|
||
Epub 2018 Feb 13
|
||
doi: 10.1016/S0140-6736(18)30300-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29452711" target="_blank">29452711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427765">EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Jul;67(1):145-172.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427765" target="_blank">28427765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25906880">3.8 Nutritional management in cholestatic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raphael BP</span><br />
|
||
<span class="medgenPMjournal">World Rev Nutr Diet</span>
|
||
2015;113:178-81.
|
||
Epub 2015 Apr 13
|
||
doi: 10.1159/000360333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25906880" target="_blank">25906880</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (583)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38250951">Primary Sclerosing Cholangitis: Diagnostic Criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzagon N,
|
||
Sarcognato S,
|
||
Catanzaro E,
|
||
Bonaiuto E,
|
||
Peviani M,
|
||
Pezzato F,
|
||
Motta R</span><br />
|
||
<span class="medgenPMjournal">Tomography</span>
|
||
2024 Jan 7;10(1):47-65.
|
||
doi: 10.3390/tomography10010005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38250951" target="_blank">38250951</a><a href="/pmc/articles/PMC10820917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37584849">Management of adults with Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayoub MD,
|
||
Bakhsh AA,
|
||
Vandriel SM,
|
||
Keitel V,
|
||
Kamath BM</span><br />
|
||
<span class="medgenPMjournal">Hepatol Int</span>
|
||
2023 Oct;17(5):1098-1112.
|
||
Epub 2023 Aug 16
|
||
doi: 10.1007/s12072-023-10578-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37584849" target="_blank">37584849</a><a href="/pmc/articles/PMC10522532" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29452711">Primary sclerosing cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dyson JK,
|
||
Beuers U,
|
||
Jones DEJ,
|
||
Lohse AW,
|
||
Hudson M</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2018 Jun 23;391(10139):2547-2559.
|
||
Epub 2018 Feb 13
|
||
doi: 10.1016/S0140-6736(18)30300-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29452711" target="_blank">29452711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427765">EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Jul;67(1):145-172.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427765" target="_blank">28427765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10829996">Vitamin E updated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthai J</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1996 Mar-Apr;63(2):242-53.
|
||
doi: 10.1007/BF02845251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10829996" target="_blank">10829996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (553)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37962077">Efficacy and Safety of Elafibranor in Primary Biliary Cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kowdley KV,
|
||
Bowlus CL,
|
||
Levy C,
|
||
Akarca US,
|
||
Alvares-da-Silva MR,
|
||
Andreone P,
|
||
Arrese M,
|
||
Corpechot C,
|
||
Francque SM,
|
||
Heneghan MA,
|
||
Invernizzi P,
|
||
Jones D,
|
||
Kruger FC,
|
||
Lawitz E,
|
||
Mayo MJ,
|
||
Shiffman ML,
|
||
Swain MG,
|
||
Valera JM,
|
||
Vargas V,
|
||
Vierling JM,
|
||
Villamil A,
|
||
Addy C,
|
||
Dietrich J,
|
||
Germain JM,
|
||
Mazain S,
|
||
Rafailovic D,
|
||
Taddé B,
|
||
Miller B,
|
||
Shu J,
|
||
Zein CO,
|
||
Schattenberg JM;
|
||
ELATIVE Study Investigators’ Group;
|
||
ELATIVE Study Investigators' Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 29;390(9):795-805.
|
||
Epub 2023 Nov 13
|
||
doi: 10.1056/NEJMoa2306185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37962077" target="_blank">37962077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34142342">Cholestatic Liver Disease: Current Treatment Strategies and New Therapeutic Agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa S,
|
||
Yoneda M,
|
||
Kurita Y,
|
||
Nogami A,
|
||
Honda Y,
|
||
Hosono K,
|
||
Nakajima A</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2021 Jul;81(10):1181-1192.
|
||
Epub 2021 Jun 17
|
||
doi: 10.1007/s40265-021-01545-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34142342" target="_blank">34142342</a><a href="/pmc/articles/PMC8282588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34028753">Mouse Models of Liver Fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravichandra A,
|
||
Schwabe RF</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2021;2299:339-356.
|
||
doi: 10.1007/978-1-0716-1382-5_23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34028753" target="_blank">34028753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427765">EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Jul;67(1):145-172.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427765" target="_blank">28427765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10829996">Vitamin E updated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthai J</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1996 Mar-Apr;63(2):242-53.
|
||
doi: 10.1007/BF02845251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10829996" target="_blank">10829996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (482)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37084929">Recent Advances in the Management of Primary Sclerosing Cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assis DN,
|
||
Bowlus CL</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2023 Jul;21(8):2065-2075.
|
||
Epub 2023 Apr 19
|
||
doi: 10.1016/j.cgh.2023.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37084929" target="_blank">37084929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34142342">Cholestatic Liver Disease: Current Treatment Strategies and New Therapeutic Agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa S,
|
||
Yoneda M,
|
||
Kurita Y,
|
||
Nogami A,
|
||
Honda Y,
|
||
Hosono K,
|
||
Nakajima A</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2021 Jul;81(10):1181-1192.
|
||
Epub 2021 Jun 17
|
||
doi: 10.1007/s40265-021-01545-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34142342" target="_blank">34142342</a><a href="/pmc/articles/PMC8282588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427765">EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Jul;67(1):145-172.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427765" target="_blank">28427765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15062201">Primary sclerosing cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes FD,
|
||
Lindor KD</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2004 Feb;8(1):195-211.
|
||
doi: 10.1016/S1089-3261(03)00127-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15062201" target="_blank">15062201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9742487">Cholestatic liver disease: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickson ER</span><br />
|
||
<span class="medgenPMjournal">Liver Transpl Surg</span>
|
||
1998 Sep;4(5 Suppl 1):S1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9742487" target="_blank">9742487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (376)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38563584">Complementary and alternative medicines and liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philips CA,
|
||
Theruvath AH,
|
||
Ravindran R,
|
||
Augustine P</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2024 Apr 1;8(4)
|
||
Epub 2024 Apr 3
|
||
doi: 10.1097/HC9.0000000000000417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38563584" target="_blank">38563584</a><a href="/pmc/articles/PMC10990366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38250951">Primary Sclerosing Cholangitis: Diagnostic Criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazzagon N,
|
||
Sarcognato S,
|
||
Catanzaro E,
|
||
Bonaiuto E,
|
||
Peviani M,
|
||
Pezzato F,
|
||
Motta R</span><br />
|
||
<span class="medgenPMjournal">Tomography</span>
|
||
2024 Jan 7;10(1):47-65.
|
||
doi: 10.3390/tomography10010005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38250951" target="_blank">38250951</a><a href="/pmc/articles/PMC10820917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37962077">Efficacy and Safety of Elafibranor in Primary Biliary Cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kowdley KV,
|
||
Bowlus CL,
|
||
Levy C,
|
||
Akarca US,
|
||
Alvares-da-Silva MR,
|
||
Andreone P,
|
||
Arrese M,
|
||
Corpechot C,
|
||
Francque SM,
|
||
Heneghan MA,
|
||
Invernizzi P,
|
||
Jones D,
|
||
Kruger FC,
|
||
Lawitz E,
|
||
Mayo MJ,
|
||
Shiffman ML,
|
||
Swain MG,
|
||
Valera JM,
|
||
Vargas V,
|
||
Vierling JM,
|
||
Villamil A,
|
||
Addy C,
|
||
Dietrich J,
|
||
Germain JM,
|
||
Mazain S,
|
||
Rafailovic D,
|
||
Taddé B,
|
||
Miller B,
|
||
Shu J,
|
||
Zein CO,
|
||
Schattenberg JM;
|
||
ELATIVE Study Investigators’ Group;
|
||
ELATIVE Study Investigators' Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 29;390(9):795-805.
|
||
Epub 2023 Nov 13
|
||
doi: 10.1056/NEJMoa2306185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37962077" target="_blank">37962077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12853201">Primary biliary cirrhosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Talwalkar JA,
|
||
Lindor KD</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2003 Jul 5;362(9377):53-61.
|
||
doi: 10.1016/S0140-6736(03)13808-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12853201" target="_blank">12853201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9512810">Sclerosing cholangitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marotta PJ,
|
||
LaRusso NF,
|
||
Wiesner RH</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Gastroenterol</span>
|
||
1997 Dec;11(4):781-800.
|
||
doi: 10.1016/s0950-3528(97)90021-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9512810" target="_blank">9512810</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (376)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37453191">Chlorogenic acids: A pharmacological systematic review on their hepatoprotective effects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xue H,
|
||
Wei M,
|
||
Ji L</span><br />
|
||
<span class="medgenPMjournal">Phytomedicine</span>
|
||
2023 Sep;118:154961.
|
||
Epub 2023 Jul 9
|
||
doi: 10.1016/j.phymed.2023.154961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37453191" target="_blank">37453191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35643886">Nutrition as Therapy in Liver Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah ND,
|
||
Barritt AS 4th</span><br />
|
||
<span class="medgenPMjournal">Clin Ther</span>
|
||
2022 May;44(5):682-696.
|
||
Epub 2022 May 25
|
||
doi: 10.1016/j.clinthera.2022.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35643886" target="_blank">35643886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31146965">The Pharmacologic Management of Osteoporosis in Primary Biliary Cholangitis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danford CJ,
|
||
Ezaz G,
|
||
Trivedi HD,
|
||
Tapper EB,
|
||
Bonder A</span><br />
|
||
<span class="medgenPMjournal">J Clin Densitom</span>
|
||
2020 Apr-Jun;23(2):223-236.
|
||
Epub 2019 May 10
|
||
doi: 10.1016/j.jocd.2019.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31146965" target="_blank">31146965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30875780">Analysis of Flavonoids Bioactivity for Cholestatic Liver Disease: Systematic Literature Search and Experimental Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Salgado JC,
|
||
Estrada-Soto S,
|
||
García-Jiménez S,
|
||
Montes S,
|
||
Gómez-Zamudio J,
|
||
Villalobos-Molina R</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2019 Mar 14;9(3)
|
||
doi: 10.3390/biom9030102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30875780" target="_blank">30875780</a><a href="/pmc/articles/PMC6468533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestatic%20liver%20disease%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 (20)</a></div></div>
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