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<meta name="keywords" content="C1837256, finding, hepatic macrovesicular steatosis, macrovesicular hepatic steatosis, macrovesicular steatosis, 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="A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Macrovesicular hepatic steatosis (Concept Id: C1837256)
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<!--
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ConceptID=C1837256
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Macrovesicular hepatic steatosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373290</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)&#10;Click for more information.">C1837256</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Macrovesicular steatosis</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:0001403">HP:0001403</a></td></tr>
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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>
<div class="portlet_content ln">A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. [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 class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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">Macrovesicular hepatic steatosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/1616314" ref="tree=MeSH" title="MedGen record for Abnormal liver morphology">Abnormal liver morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841588" ref="tree=MeSH" title="MedGen record for Abnormal liver metabolite concentration">Abnormal liver metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1390544" ref="tree=MeSH" title="MedGen record for Storage in hepatocytes">Storage in hepatocytes</a></span><ul><li><span class="TLline"><a href="/medgen/324718" ref="tree=MeSH" title="MedGen record for Lipid accumulation in hepatocytes">Lipid accumulation in hepatocytes</a></span><ul><li><span class="TLline"><a href="/medgen/398225" ref="tree=MeSH" title="MedGen record for Hepatic steatosis">Hepatic steatosis</a></span><ul><li><span class="matched_ds">Macrovesicular hepatic steatosis</span></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 mgSection" id="ID_112">
<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_322211"><div><strong>Carnitine palmitoyl transferase II deficiency, severe infantile form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322211</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)&#10;Click for more information.">C1833511</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322211">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318896"><div><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318896</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)&#10;Click for more information.">C1833518</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318896">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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)&#10;Click for more information.">C1850406</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340091"><div><strong>Neonatal intrahepatic cholestasis due to citrin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340091</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)&#10;Click for more information.">C1853942</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340091">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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)&#10;Click for more information.">C3275447</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_480294"><div><strong>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480294</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)&#10;Click for more information.">C3278664</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infants with untreated TRMU deficiency, a mitochondrial disorder, typically become symptomatic between ages two and four months with transient acute liver dysfunction (including elevated transaminases, abnormal synthetic functions, and/or hepatomegaly), metabolic derangements (severe persistent lactic acidosis, hypoglycemia, hyperammonemia), and poor weight gain. With proper supportive treatment (but not disease-targeted therapy), abnormal liver findings (including coagulopathy) improve or normalize. Likewise, metabolic derangements improve. However, other manifestations typical of a mitochondrial disorder such as persistent lactic acidosis, neurologic dysfunction (including developmental delay / intellectual disability and seizures), cardiomyopathy, and respiratory failure may persist or develop or over time.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/480294">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816385"><div><strong>Combined oxidative phosphorylation deficiency 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816385</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)&#10;Click for more information.">C3810055</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816385">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_901370"><div><strong>DOCK2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901370</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)&#10;Click for more information.">C4225328</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/901370">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934594"><div><strong>Mucopolysaccharidosis-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934594</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)&#10;Click for more information.">C4310627</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934594">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1645614"><div><strong>Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645614</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)&#10;Click for more information.">C4706421</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-12 (COXPD12) is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1645614">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648356"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648356</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)&#10;Click for more information.">C4748769</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/1648356">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1675208"><div><strong>Combined oxidative phosphorylation deficiency 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675208</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)&#10;Click for more information.">C5193031</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1675208">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1741713"><div><strong>Mandibuloacral dysplasia progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1741713</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)&#10;Click for more information.">C5436867</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1741713">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_480294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, neonatal form</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, severe infantile form</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 19</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 37</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DOCK2 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1741713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia progeroid syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis-plus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal intrahepatic cholestasis due to citrin deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ogden syndrome</a></div></span></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/25105443">Thiazolidinedione therapy versus lifestyle recommendation in the treatment of post-liver transplant graft steatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Åberg F,
Koljonen V,
Nikkilä K,
Boyd S,
Arola J,
Isoniemi H</span><br />
<span class="medgenPMjournal">Ann Transplant</span>
2014 Aug 8;19:389-96.
doi: 10.12659/AOT.890664.
<span class="bold">PMID: </span><a href="/pubmed/25105443" target="_blank">25105443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24488902">Efficacy of Tiopronin in treatment of severe non-alcoholic fatty liver disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang MC,
Cheng L,
Qiu L,
Jia RG,
Sun RQ,
Wang XP,
Hu GY,
Zhao Y</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2014;18(2):160-4.
<span class="bold">PMID: </span><a href="/pubmed/24488902" target="_blank">24488902</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22macrovesicular%20hepatic%20steatosis%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 (2)</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/35377548">Identification of hepatic steatosis in living liver donors by machine learning models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
Han S,
Lee D,
Shim JH,
Kim KM,
Lim YS,
Lee HC,
Jung DH,
Lee SG,
Kim KH,
Choi J</span><br />
<span class="medgenPMjournal">Hepatol Commun</span>
2022 Jul;6(7):1689-1698.
Epub 2022 Apr 4
doi: 10.1002/hep4.1921.
<span class="bold">PMID: </span><a href="/pubmed/35377548" target="_blank">35377548</a><a href="/pmc/articles/PMC9234640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24050726">Lipid profile and hepatic steatosis in hepatitis C infected egyptian survivors of childhood cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Tawil MM,
Shoeeb AS,
Abbas A,
El-Tawil A,
El-Sayed MH</span><br />
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
2015 Feb;32(1):70-7.
Epub 2013 Sep 19
doi: 10.3109/08880018.2013.825355.
<span class="bold">PMID: </span><a href="/pubmed/24050726" target="_blank">24050726</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24533869">Hepatic steatosis in living liver donor candidates: preoperative assessment by using breath-hold triple-echo MR imaging and 1H MR spectroscopy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang I,
Lee JM,
Lee KB,
Yoon JH,
Kiefer B,
Han JK,
Choi BI</span><br />
<span class="medgenPMjournal">Radiology</span>
2014 Jun;271(3):730-8.
Epub 2014 Feb 12
doi: 10.1148/radiol.14130863.
<span class="bold">PMID: </span><a href="/pubmed/24533869" target="_blank">24533869</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16484355">Macrovesicular hepatic steatosis in living liver donors: use of CT for quantitative and qualitative assessment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park SH,
Kim PN,
Kim KW,
Lee SW,
Yoon SE,
Park SW,
Ha HK,
Lee MG,
Hwang S,
Lee SG,
Yu ES,
Cho EY</span><br />
<span class="medgenPMjournal">Radiology</span>
2006 Apr;239(1):105-12.
Epub 2006 Feb 16
doi: 10.1148/radiol.2391050361.
<span class="bold">PMID: </span><a href="/pubmed/16484355" target="_blank">16484355</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14695401">Macrovesicular hepatic steatosis in living related liver donors: correlation between CT and histologic findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Limanond P,
Raman SS,
Lassman C,
Sayre J,
Ghobrial RM,
Busuttil RW,
Saab S,
Lu DS</span><br />
<span class="medgenPMjournal">Radiology</span>
2004 Jan;230(1):276-80.
doi: 10.1148/radiol.2301021176.
<span class="bold">PMID: </span><a href="/pubmed/14695401" target="_blank">14695401</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrovesicular%20hepatic%20steatosis%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35377548">Identification of hepatic steatosis in living liver donors by machine learning models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
Han S,
Lee D,
Shim JH,
Kim KM,
Lim YS,
Lee HC,
Jung DH,
Lee SG,
Kim KH,
Choi J</span><br />
<span class="medgenPMjournal">Hepatol Commun</span>
2022 Jul;6(7):1689-1698.
Epub 2022 Apr 4
doi: 10.1002/hep4.1921.
<span class="bold">PMID: </span><a href="/pubmed/35377548" target="_blank">35377548</a><a href="/pmc/articles/PMC9234640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24533869">Hepatic steatosis in living liver donor candidates: preoperative assessment by using breath-hold triple-echo MR imaging and 1H MR spectroscopy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang I,
Lee JM,
Lee KB,
Yoon JH,
Kiefer B,
Han JK,
Choi BI</span><br />
<span class="medgenPMjournal">Radiology</span>
2014 Jun;271(3):730-8.
Epub 2014 Feb 12
doi: 10.1148/radiol.14130863.
<span class="bold">PMID: </span><a href="/pubmed/24533869" target="_blank">24533869</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19846234">Validity of real time ultrasound in the diagnosis of hepatic steatosis: a prospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dasarathy S,
Dasarathy J,
Khiyami A,
Joseph R,
Lopez R,
McCullough AJ</span><br />
<span class="medgenPMjournal">J Hepatol</span>
2009 Dec;51(6):1061-7.
Epub 2009 Sep 20
doi: 10.1016/j.jhep.2009.09.001.
<span class="bold">PMID: </span><a href="/pubmed/19846234" target="_blank">19846234</a><a href="/pmc/articles/PMC6136148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17641368">Unenhanced CT for assessment of macrovesicular hepatic steatosis in living liver donors: comparison of visual grading with liver attenuation index.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SW,
Park SH,
Kim KW,
Choi EK,
Shin YM,
Kim PN,
Lee KH,
Yu ES,
Hwang S,
Lee SG</span><br />
<span class="medgenPMjournal">Radiology</span>
2007 Aug;244(2):479-85.
doi: 10.1148/radiol.2442061177.
<span class="bold">PMID: </span><a href="/pubmed/17641368" target="_blank">17641368</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16484355">Macrovesicular hepatic steatosis in living liver donors: use of CT for quantitative and qualitative assessment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park SH,
Kim PN,
Kim KW,
Lee SW,
Yoon SE,
Park SW,
Ha HK,
Lee MG,
Hwang S,
Lee SG,
Yu ES,
Cho EY</span><br />
<span class="medgenPMjournal">Radiology</span>
2006 Apr;239(1):105-12.
Epub 2006 Feb 16
doi: 10.1148/radiol.2391050361.
<span class="bold">PMID: </span><a href="/pubmed/16484355" target="_blank">16484355</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrovesicular%20hepatic%20steatosis%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 (8)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35377548">Identification of hepatic steatosis in living liver donors by machine learning models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
Han S,
Lee D,
Shim JH,
Kim KM,
Lim YS,
Lee HC,
Jung DH,
Lee SG,
Kim KH,
Choi J</span><br />
<span class="medgenPMjournal">Hepatol Commun</span>
2022 Jul;6(7):1689-1698.
Epub 2022 Apr 4
doi: 10.1002/hep4.1921.
<span class="bold">PMID: </span><a href="/pubmed/35377548" target="_blank">35377548</a><a href="/pmc/articles/PMC9234640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24050726">Lipid profile and hepatic steatosis in hepatitis C infected egyptian survivors of childhood cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Tawil MM,
Shoeeb AS,
Abbas A,
El-Tawil A,
El-Sayed MH</span><br />
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
2015 Feb;32(1):70-7.
Epub 2013 Sep 19
doi: 10.3109/08880018.2013.825355.
<span class="bold">PMID: </span><a href="/pubmed/24050726" target="_blank">24050726</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24488902">Efficacy of Tiopronin in treatment of severe non-alcoholic fatty liver disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang MC,
Cheng L,
Qiu L,
Jia RG,
Sun RQ,
Wang XP,
Hu GY,
Zhao Y</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2014;18(2):160-4.
<span class="bold">PMID: </span><a href="/pubmed/24488902" target="_blank">24488902</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19846234">Validity of real time ultrasound in the diagnosis of hepatic steatosis: a prospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dasarathy S,
Dasarathy J,
Khiyami A,
Joseph R,
Lopez R,
McCullough AJ</span><br />
<span class="medgenPMjournal">J Hepatol</span>
2009 Dec;51(6):1061-7.
Epub 2009 Sep 20
doi: 10.1016/j.jhep.2009.09.001.
<span class="bold">PMID: </span><a href="/pubmed/19846234" target="_blank">19846234</a><a href="/pmc/articles/PMC6136148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16988508">Fatal liver failure in an adult patient with acute lymphoblastic leukemia following treatment with L-asparaginase.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bodmer M,
Sulz M,
Stadlmann S,
Droll A,
Terracciano L,
Krähenbühl S</span><br />
<span class="medgenPMjournal">Digestion</span>
2006;74(1):28-32.
Epub 2006 Sep 19
doi: 10.1159/000095827.
<span class="bold">PMID: </span><a href="/pubmed/16988508" target="_blank">16988508</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrovesicular%20hepatic%20steatosis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35377548">Identification of hepatic steatosis in living liver donors by machine learning models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
Han S,
Lee D,
Shim JH,
Kim KM,
Lim YS,
Lee HC,
Jung DH,
Lee SG,
Kim KH,
Choi J</span><br />
<span class="medgenPMjournal">Hepatol Commun</span>
2022 Jul;6(7):1689-1698.
Epub 2022 Apr 4
doi: 10.1002/hep4.1921.
<span class="bold">PMID: </span><a href="/pubmed/35377548" target="_blank">35377548</a><a href="/pmc/articles/PMC9234640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33197060">Evaluation of hepatic steatosis before liver transplantation in ex vivo by volumetric quantitative PDFF-MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen G,
Jiang J,
Wang X,
Yang M,
Xie Y,
Guo H,
Tang H,
Zhou L,
Hu D,
Kamel IR,
Chen Z,
Li Z</span><br />
<span class="medgenPMjournal">Magn Reson Med</span>
2021 May;85(5):2805-2814.
Epub 2020 Nov 16
doi: 10.1002/mrm.28592.
<span class="bold">PMID: </span><a href="/pubmed/33197060" target="_blank">33197060</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24050726">Lipid profile and hepatic steatosis in hepatitis C infected egyptian survivors of childhood cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Tawil MM,
Shoeeb AS,
Abbas A,
El-Tawil A,
El-Sayed MH</span><br />
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
2015 Feb;32(1):70-7.
Epub 2013 Sep 19
doi: 10.3109/08880018.2013.825355.
<span class="bold">PMID: </span><a href="/pubmed/24050726" target="_blank">24050726</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17879633">A validated method for quantifying macrovesicular hepatic steatosis in chronic hepatitis C.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boyles TH,
Johnson S,
Garrahan N,
Freedman AR,
Williams GT</span><br />
<span class="medgenPMjournal">Anal Quant Cytol Histol</span>
2007 Aug;29(4):244-50.
<span class="bold">PMID: </span><a href="/pubmed/17879633" target="_blank">17879633</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14695401">Macrovesicular hepatic steatosis in living related liver donors: correlation between CT and histologic findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Limanond P,
Raman SS,
Lassman C,
Sayre J,
Ghobrial RM,
Busuttil RW,
Saab S,
Lu DS</span><br />
<span class="medgenPMjournal">Radiology</span>
2004 Jan;230(1):276-80.
doi: 10.1148/radiol.2301021176.
<span class="bold">PMID: </span><a href="/pubmed/14695401" target="_blank">14695401</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrovesicular%20hepatic%20steatosis%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35377548">Identification of hepatic steatosis in living liver donors by machine learning models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lim J,
Han S,
Lee D,
Shim JH,
Kim KM,
Lim YS,
Lee HC,
Jung DH,
Lee SG,
Kim KH,
Choi J</span><br />
<span class="medgenPMjournal">Hepatol Commun</span>
2022 Jul;6(7):1689-1698.
Epub 2022 Apr 4
doi: 10.1002/hep4.1921.
<span class="bold">PMID: </span><a href="/pubmed/35377548" target="_blank">35377548</a><a href="/pmc/articles/PMC9234640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33197060">Evaluation of hepatic steatosis before liver transplantation in ex vivo by volumetric quantitative PDFF-MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen G,
Jiang J,
Wang X,
Yang M,
Xie Y,
Guo H,
Tang H,
Zhou L,
Hu D,
Kamel IR,
Chen Z,
Li Z</span><br />
<span class="medgenPMjournal">Magn Reson Med</span>
2021 May;85(5):2805-2814.
Epub 2020 Nov 16
doi: 10.1002/mrm.28592.
<span class="bold">PMID: </span><a href="/pubmed/33197060" target="_blank">33197060</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24050726">Lipid profile and hepatic steatosis in hepatitis C infected egyptian survivors of childhood cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Tawil MM,
Shoeeb AS,
Abbas A,
El-Tawil A,
El-Sayed MH</span><br />
<span class="medgenPMjournal">Pediatr Hematol Oncol</span>
2015 Feb;32(1):70-7.
Epub 2013 Sep 19
doi: 10.3109/08880018.2013.825355.
<span class="bold">PMID: </span><a href="/pubmed/24050726" target="_blank">24050726</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24488902">Efficacy of Tiopronin in treatment of severe non-alcoholic fatty liver disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang MC,
Cheng L,
Qiu L,
Jia RG,
Sun RQ,
Wang XP,
Hu GY,
Zhao Y</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2014;18(2):160-4.
<span class="bold">PMID: </span><a href="/pubmed/24488902" target="_blank">24488902</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14695401">Macrovesicular hepatic steatosis in living related liver donors: correlation between CT and histologic findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Limanond P,
Raman SS,
Lassman C,
Sayre J,
Ghobrial RM,
Busuttil RW,
Saab S,
Lu DS</span><br />
<span class="medgenPMjournal">Radiology</span>
2004 Jan;230(1):276-80.
doi: 10.1148/radiol.2301021176.
<span class="bold">PMID: </span><a href="/pubmed/14695401" target="_blank">14695401</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macrovesicular%20hepatic%20steatosis%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 (8)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22macrovesicular%20hepatic%20steatosis%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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