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<meta name="keywords" content="C0162533, acute hepatic porphyria, acute porphyria, alad deficiency, delta-aminolevulinate dehydratase deficiency, disease or syndrome, hepatic porphyria, hepatic porphyrias, liver porphyria, porphobilinogen synthase deficiency, porphyria of liver, porphyria, hepatic, porphyrias, hepatic, 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 rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=58119
|
||
ConceptID=C0162533
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hepatic porphyria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>58119</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.">C0162533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hepatic Porphyria; Hepatic Porphyrias; Porphyria, Hepatic; Porphyrias, Hepatic</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hepatic porphyria (55056006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002520" target="_blank">MONDO:0002520</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95157">ORPHA95157</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare). [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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">Hepatic porphyria</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/9792" ref="tree=MeSH" title="MedGen record for Disease of liver">Disease of liver</a></span><ul><li><span class="matched_ds">Hepatic porphyria</span><ul><li><span class="TLline"><a href="/medgen/56452" ref="tree=MeSH" title="MedGen record for Acute intermittent porphyria">Acute intermittent porphyria</a></span></li><li><span class="TLline"><a href="/medgen/56455" ref="tree=MeSH" title="MedGen record for Erythropoietic protoporphyria">Erythropoietic protoporphyria</a></span></li><li><span class="TLline"><a href="/medgen/57940" ref="tree=MeSH" title="MedGen record for Hepatoerythropoietic porphyria">Hepatoerythropoietic porphyria</a></span></li><li><span class="TLline"><a href="/medgen/57931" ref="tree=MeSH" title="MedGen record for Hereditary coproporphyria">Hereditary coproporphyria</a></span></li><li><span class="TLline"><a href="/medgen/78659" ref="tree=MeSH" title="MedGen record for Porphobilinogen synthase deficiency">Porphobilinogen synthase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/56453" ref="tree=MeSH" title="MedGen record for Porphyria cutanea tarda">Porphyria cutanea tarda</a></span><ul><li><span class="TLline"><a href="/medgen/75669" ref="tree=MeSH" title="MedGen record for Familial porphyria cutanea tarda">Familial porphyria cutanea tarda</a></span></li><li><span class="TLline"><a href="/medgen/357391" ref="tree=MeSH" title="MedGen record for Sporadic porphyria cutanea tarda">Sporadic porphyria cutanea tarda</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/58118" ref="tree=MeSH" title="MedGen record for Variegate porphyria">Variegate porphyria</a></span></li></ul></li></ul></li></ul></li></ul></div></div></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/38992557">Canadian guidance for diagnosis and management of acute hepatic porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Francisco Idiaquez J,
|
||
Khandelwal A,
|
||
Nassar BA,
|
||
Thoni AJ,
|
||
Mann A,
|
||
Prasad C,
|
||
O'Brien A,
|
||
Sholzberg M,
|
||
Colantonio DA,
|
||
Bril V</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2024 Oct;131-132:110792.
|
||
Epub 2024 Jul 9
|
||
doi: 10.1016/j.clinbiochem.2024.110792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38992557" target="_blank">38992557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37827883">Therapeutic options for the management of acute hepatic porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilera Peiró P</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Sep;159 Suppl 1:S29-S32.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1016/j.medcli.2023.05.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37827883" target="_blank">37827883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28605040">Acute hepatic porphyrias: Recommendations for evaluation and long-term management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
|
||
Wang B,
|
||
Anderson KE,
|
||
Bloomer JR,
|
||
Bissell DM,
|
||
Bonkovsky HL,
|
||
Phillips JD,
|
||
Desnick RJ;
|
||
Porphyrias Consortium of the Rare Diseases Clinical Research Network</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
2017 Oct;66(4):1314-1322.
|
||
Epub 2017 Sep 4
|
||
doi: 10.1002/hep.29313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28605040" target="_blank">28605040</a><a href="/pmc/articles/PMC5605422" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hepatic%20porphyria%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 (28)</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/37540847">Update on the Porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickey AK,
|
||
Leaf RK,
|
||
Balwani M</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2024 Jan 29;75:321-335.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1146/annurev-med-042921-123602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37540847" target="_blank">37540847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33871817">Givosiran: A Review in Acute Hepatic Porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syed YY</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2021 May;81(7):841-848.
|
||
Epub 2021 Apr 19
|
||
doi: 10.1007/s40265-021-01511-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33871817" target="_blank">33871817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32521132">Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
|
||
Sardh E,
|
||
Ventura P,
|
||
Peiró PA,
|
||
Rees DC,
|
||
Stölzel U,
|
||
Bissell DM,
|
||
Bonkovsky HL,
|
||
Windyga J,
|
||
Anderson KE,
|
||
Parker C,
|
||
Silver SM,
|
||
Keel SB,
|
||
Wang JD,
|
||
Stein PE,
|
||
Harper P,
|
||
Vassiliou D,
|
||
Wang B,
|
||
Phillips J,
|
||
Ivanova A,
|
||
Langendonk JG,
|
||
Kauppinen R,
|
||
Minder E,
|
||
Horie Y,
|
||
Penz C,
|
||
Chen J,
|
||
Liu S,
|
||
Ko JJ,
|
||
Sweetser MT,
|
||
Garg P,
|
||
Vaishnaw A,
|
||
Kim JB,
|
||
Simon AR,
|
||
Gouya L;
|
||
ENVISION Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jun 11;382(24):2289-2301.
|
||
doi: 10.1056/NEJMoa1913147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32521132" target="_blank">32521132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32085780">Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baravelli CM,
|
||
Aarsand AK,
|
||
Sandberg S,
|
||
Tollånes MC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Feb 21;15(1):56.
|
||
doi: 10.1186/s13023-019-1273-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32085780" target="_blank">32085780</a><a href="/pmc/articles/PMC7035738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27796941">Hepatic porphyria: A narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora S,
|
||
Young S,
|
||
Kodali S,
|
||
Singal AK</span><br />
|
||
<span class="medgenPMjournal">Indian J Gastroenterol</span>
|
||
2016 Nov;35(6):405-418.
|
||
Epub 2016 Oct 31
|
||
doi: 10.1007/s12664-016-0698-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27796941" target="_blank">27796941</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (77)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37540847">Update on the Porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickey AK,
|
||
Leaf RK,
|
||
Balwani M</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2024 Jan 29;75:321-335.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1146/annurev-med-042921-123602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37540847" target="_blank">37540847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37827888">Diagnosis, evaluation and monitoring of acute hepatic porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solares I,
|
||
Castelbón FJ,
|
||
Enríquez de Salamanca R,
|
||
Morales-Conejo M</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Sep;159 Suppl 1:S19-S24.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1016/j.medcli.2023.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37827888" target="_blank">37827888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37827883">Therapeutic options for the management of acute hepatic porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilera Peiró P</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Sep;159 Suppl 1:S29-S32.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1016/j.medcli.2023.05.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37827883" target="_blank">37827883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33928570">Development of siRNA Therapeutics for the Treatment of Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holm A,
|
||
Løvendorf MB,
|
||
Kauppinen S</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2021;2282:57-75.
|
||
doi: 10.1007/978-1-0716-1298-9_5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33928570" target="_blank">33928570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33786855">Porphyric neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gandhi Mehta RK,
|
||
Caress JB,
|
||
Rudnick SR,
|
||
Bonkovsky HL</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Aug;64(2):140-152.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1002/mus.27232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33786855" target="_blank">33786855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (100)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36881759">Chemistry, structure and function of approved oligonucleotide therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Egli M,
|
||
Manoharan M</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acids Res</span>
|
||
2023 Apr 11;51(6):2529-2573.
|
||
doi: 10.1093/nar/gkad067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36881759" target="_blank">36881759</a><a href="/pmc/articles/PMC10085713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35997897">Therapeutic siRNA: State-of-the-Art and Future Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich M,
|
||
Aigner A</span><br />
|
||
<span class="medgenPMjournal">BioDrugs</span>
|
||
2022 Sep;36(5):549-571.
|
||
Epub 2022 Aug 23
|
||
doi: 10.1007/s40259-022-00549-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35997897" target="_blank">35997897</a><a href="/pmc/articles/PMC9396607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32592692">Delivery of Oligonucleotides to the Liver with GalNAc: From Research to Registered Therapeutic Drug.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Debacker AJ,
|
||
Voutila J,
|
||
Catley M,
|
||
Blakey D,
|
||
Habib N</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2020 Aug 5;28(8):1759-1771.
|
||
Epub 2020 Jun 17
|
||
doi: 10.1016/j.ymthe.2020.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32592692" target="_blank">32592692</a><a href="/pmc/articles/PMC7403466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32521132">Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
|
||
Sardh E,
|
||
Ventura P,
|
||
Peiró PA,
|
||
Rees DC,
|
||
Stölzel U,
|
||
Bissell DM,
|
||
Bonkovsky HL,
|
||
Windyga J,
|
||
Anderson KE,
|
||
Parker C,
|
||
Silver SM,
|
||
Keel SB,
|
||
Wang JD,
|
||
Stein PE,
|
||
Harper P,
|
||
Vassiliou D,
|
||
Wang B,
|
||
Phillips J,
|
||
Ivanova A,
|
||
Langendonk JG,
|
||
Kauppinen R,
|
||
Minder E,
|
||
Horie Y,
|
||
Penz C,
|
||
Chen J,
|
||
Liu S,
|
||
Ko JJ,
|
||
Sweetser MT,
|
||
Garg P,
|
||
Vaishnaw A,
|
||
Kim JB,
|
||
Simon AR,
|
||
Gouya L;
|
||
ENVISION Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jun 11;382(24):2289-2301.
|
||
doi: 10.1056/NEJMoa1913147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32521132" target="_blank">32521132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32034693">Givosiran: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott LJ</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2020 Feb;80(3):335-339.
|
||
doi: 10.1007/s40265-020-01269-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32034693" target="_blank">32034693</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (80)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38462517">Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozaki N,
|
||
Hayashi Y,
|
||
Kiyota A</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2024 Nov 1;63(21):2961-2964.
|
||
Epub 2024 Mar 11
|
||
doi: 10.2169/internalmedicine.3284-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38462517" target="_blank">38462517</a><a href="/pmc/articles/PMC11604377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34411356">Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vassiliou D,
|
||
Sardh E</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2022 Jan;291(1):81-94.
|
||
Epub 2021 Sep 23
|
||
doi: 10.1111/joim.13376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34411356" target="_blank">34411356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34154993">The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDougall R,
|
||
Ramsden D,
|
||
Agarwal S,
|
||
Agarwal S,
|
||
Aluri K,
|
||
Arciprete M,
|
||
Brown C,
|
||
Castellanos-Rizaldos E,
|
||
Charisse K,
|
||
Chong S,
|
||
Cichocki J,
|
||
Fitzgerald K,
|
||
Goel V,
|
||
Gu Y,
|
||
Guenther D,
|
||
Habtemariam B,
|
||
Jadhav V,
|
||
Janas M,
|
||
Jayaraman M,
|
||
Kurz J,
|
||
Li J,
|
||
Liu J,
|
||
Liu X,
|
||
Liou S,
|
||
Maclauchlin C,
|
||
Maier M,
|
||
Manoharan M,
|
||
Nair JK,
|
||
Robbie G,
|
||
Schmidt K,
|
||
Smith P,
|
||
Theile C,
|
||
Vaishnaw A,
|
||
Waldron S,
|
||
Xu Y,
|
||
Zhang X,
|
||
Zlatev I,
|
||
Wu JT</span><br />
|
||
<span class="medgenPMjournal">Drug Metab Dispos</span>
|
||
2022 Jun;50(6):781-797.
|
||
Epub 2021 Jun 21
|
||
doi: 10.1124/dmd.121.000428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34154993" target="_blank">34154993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34375916">Neurology of the acute hepatic porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira Santos M,
|
||
Leal Rato M</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2021 Sep 15;428:117605.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1016/j.jns.2021.117605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34375916" target="_blank">34375916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27796941">Hepatic porphyria: A narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora S,
|
||
Young S,
|
||
Kodali S,
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Singal AK</span><br />
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<span class="medgenPMjournal">Indian J Gastroenterol</span>
|
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2016 Nov;35(6):405-418.
|
||
Epub 2016 Oct 31
|
||
doi: 10.1007/s12664-016-0698-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27796941" target="_blank">27796941</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (40)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37078226">Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantel Ä,
|
||
Vassiliou D,
|
||
Lissing M,
|
||
Stephansson O,
|
||
Wahlin S,
|
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Sardh E</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):675-686.
|
||
Epub 2023 Apr 26
|
||
doi: 10.1002/jimd.12616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37078226" target="_blank">37078226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34411356">Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vassiliou D,
|
||
Sardh E</span><br />
|
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<span class="medgenPMjournal">J Intern Med</span>
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2022 Jan;291(1):81-94.
|
||
Epub 2021 Sep 23
|
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doi: 10.1111/joim.13376.
|
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<span class="bold">PMID: </span><a href="/pubmed/34411356" target="_blank">34411356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34154993">The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDougall R,
|
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Ramsden D,
|
||
Agarwal S,
|
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Agarwal S,
|
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Aluri K,
|
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Arciprete M,
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Brown C,
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Castellanos-Rizaldos E,
|
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Charisse K,
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Chong S,
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Cichocki J,
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Fitzgerald K,
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Goel V,
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Gu Y,
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Guenther D,
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Habtemariam B,
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Jadhav V,
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Janas M,
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Jayaraman M,
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Kurz J,
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Li J,
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Liu J,
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Liu X,
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||
Liou S,
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Maclauchlin C,
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Maier M,
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||
Manoharan M,
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Nair JK,
|
||
Robbie G,
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Schmidt K,
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Smith P,
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||
Theile C,
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Vaishnaw A,
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||
Waldron S,
|
||
Xu Y,
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||
Zhang X,
|
||
Zlatev I,
|
||
Wu JT</span><br />
|
||
<span class="medgenPMjournal">Drug Metab Dispos</span>
|
||
2022 Jun;50(6):781-797.
|
||
Epub 2021 Jun 21
|
||
doi: 10.1124/dmd.121.000428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34154993" target="_blank">34154993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32521132">Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani M,
|
||
Sardh E,
|
||
Ventura P,
|
||
Peiró PA,
|
||
Rees DC,
|
||
Stölzel U,
|
||
Bissell DM,
|
||
Bonkovsky HL,
|
||
Windyga J,
|
||
Anderson KE,
|
||
Parker C,
|
||
Silver SM,
|
||
Keel SB,
|
||
Wang JD,
|
||
Stein PE,
|
||
Harper P,
|
||
Vassiliou D,
|
||
Wang B,
|
||
Phillips J,
|
||
Ivanova A,
|
||
Langendonk JG,
|
||
Kauppinen R,
|
||
Minder E,
|
||
Horie Y,
|
||
Penz C,
|
||
Chen J,
|
||
Liu S,
|
||
Ko JJ,
|
||
Sweetser MT,
|
||
Garg P,
|
||
Vaishnaw A,
|
||
Kim JB,
|
||
Simon AR,
|
||
Gouya L;
|
||
ENVISION Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jun 11;382(24):2289-2301.
|
||
doi: 10.1056/NEJMoa1913147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32521132" target="_blank">32521132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32085780">Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baravelli CM,
|
||
Aarsand AK,
|
||
Sandberg S,
|
||
Tollånes MC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Feb 21;15(1):56.
|
||
doi: 10.1186/s13023-019-1273-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32085780" target="_blank">32085780</a><a href="/pmc/articles/PMC7035738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (48)</a></div></div>
|
||
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|
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|
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<div class="portlet mgSection" id="ID_104">
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|
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<div class="nl"><a target="_blank" href="/pubmed/36229799">New-onset and relapsed liver diseases following COVID-19 vaccination: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alhumaid S,
|
||
Al Mutair A,
|
||
Rabaan AA,
|
||
ALShakhs FM,
|
||
Choudhary OP,
|
||
Yong SJ,
|
||
Nainu F,
|
||
Khan A,
|
||
Muhammad J,
|
||
Alhelal F,
|
||
Al Khamees MH,
|
||
Alsouaib HA,
|
||
Al Majhad AS,
|
||
Al-Tarfi HR,
|
||
ALyasin AH,
|
||
Alatiyyah YY,
|
||
Alsultan AA,
|
||
Alessa ME,
|
||
Alessa ME,
|
||
Alissa MA,
|
||
Alsayegh EH,
|
||
Alshakhs HN,
|
||
Al Samaeel HA,
|
||
AlShayeb RA,
|
||
Alnami DA,
|
||
Alhassan HA,
|
||
Alabdullah AA,
|
||
Alhmed AH,
|
||
AlDera FH,
|
||
Hajissa K,
|
||
Al-Tawfiq JA,
|
||
Al-Omari A</span><br />
|
||
<span class="medgenPMjournal">BMC Gastroenterol</span>
|
||
2022 Oct 13;22(1):433.
|
||
doi: 10.1186/s12876-022-02507-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36229799" target="_blank">36229799</a><a href="/pmc/articles/PMC9559550" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatic%20porphyria%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 (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(%22hepatic%20porphyria%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hepatic%20porphyria%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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