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<!--
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UID=1853225
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ConceptID=C5872948
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced erythrocyte porphobilinogen deaminase activity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853225</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.">C5872948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:4000199">HP:4000199</a></td></tr>
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<div class="portlet_content ln">Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal. [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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Reduced erythrocyte porphobilinogen deaminase activity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/868154" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte enzyme concentration or activity">Abnormal erythrocyte enzyme concentration or activity</a></span><ul><li><span class="matched_ds">Reduced erythrocyte porphobilinogen deaminase activity</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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_56452"><div><strong>Acute intermittent porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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.">C0162565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute porphyria-related manifestations to date.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859316"><div><strong>Encephalopathy, porphyria-related</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859316</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.">C5935574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Porphyria-related encephalopathy (ENCEP) is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. The disease course is usually rapidly progressive and may lead to death in childhood. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity (Solis et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859316">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute intermittent porphyria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, porphyria-related</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/37773850">HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Lei JJ,
|
||
Dong BX,
|
||
Ren Y,
|
||
Yang J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Sep 29;102(39):e35144.
|
||
doi: 10.1097/MD.0000000000035144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37773850" target="_blank">37773850</a><a href="/pmc/articles/PMC10545320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22705251">A multifunctional 5-aminolevulinic acid derivative induces erythroid differentiation of K562 human erythroleukemic cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berkovitch-Luria G,
|
||
Yakobovitch S,
|
||
Weitman M,
|
||
Nudelman A,
|
||
Rozic G,
|
||
Rephaeli A,
|
||
Malik Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Pharm Sci</span>
|
||
2012 Aug 30;47(1):206-14.
|
||
Epub 2012 Jun 13
|
||
doi: 10.1016/j.ejps.2012.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22705251" target="_blank">22705251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9570906">Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos JL,
|
||
Fontanellas A,
|
||
Batlle AM,
|
||
Enríquez de Salamanca RE</span><br />
|
||
<span class="medgenPMjournal">Ecotoxicol Environ Saf</span>
|
||
1998 Mar;39(3):168-71.
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<div class="nl"><a target="_blank" href="/pubmed/1558795">Porphyrin metabolism in some malignant diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">el-Sharabasy MM,
|
||
el-Waseef AM,
|
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Hafez MM,
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Salim SA</span><br />
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<span class="medgenPMjournal">Br J Cancer</span>
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1992 Mar;65(3):409-12.
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doi: 10.1038/bjc.1992.83.
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<span class="bold">PMID: </span><a href="/pubmed/1558795" target="_blank">1558795</a><a href="/pmc/articles/PMC1977583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3015635">Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meissner PN,
|
||
Day RS,
|
||
Moore MR,
|
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Disler PB,
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Harley E</span><br />
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|
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doi: 10.1111/j.1365-2362.1986.tb01339.x.
|
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<span class="bold">PMID: </span><a href="/pubmed/3015635" target="_blank">3015635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37773850">HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Lei JJ,
|
||
Dong BX,
|
||
Ren Y,
|
||
Yang J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Sep 29;102(39):e35144.
|
||
doi: 10.1097/MD.0000000000035144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37773850" target="_blank">37773850</a><a href="/pmc/articles/PMC10545320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275677">Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linenberger M,
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Fertrin KY</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
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||
2020 Dec 4;2020(1):400-410.
|
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doi: 10.1182/hematology.2020000124.
|
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<span class="bold">PMID: </span><a href="/pubmed/33275677" target="_blank">33275677</a><a href="/pmc/articles/PMC7727547" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21655622">The centrality of PBGD expression levels on ALA-PDT efficacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schauder A,
|
||
Feuerstein T,
|
||
Malik Z</span><br />
|
||
<span class="medgenPMjournal">Photochem Photobiol Sci</span>
|
||
2011 Aug;10(8):1310-7.
|
||
Epub 2011 Jun 9
|
||
doi: 10.1039/c1pp05085k.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21655622" target="_blank">21655622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9570906">Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos JL,
|
||
Fontanellas A,
|
||
Batlle AM,
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Enríquez de Salamanca RE</span><br />
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||
<span class="medgenPMjournal">Ecotoxicol Environ Saf</span>
|
||
1998 Mar;39(3):168-71.
|
||
doi: 10.1006/eesa.1997.1613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9570906" target="_blank">9570906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3015635">Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meissner PN,
|
||
Day RS,
|
||
Moore MR,
|
||
Disler PB,
|
||
Harley E</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
1986 Jun;16(3):257-61.
|
||
doi: 10.1111/j.1365-2362.1986.tb01339.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3015635" target="_blank">3015635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%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/21655622">The centrality of PBGD expression levels on ALA-PDT efficacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schauder A,
|
||
Feuerstein T,
|
||
Malik Z</span><br />
|
||
<span class="medgenPMjournal">Photochem Photobiol Sci</span>
|
||
2011 Aug;10(8):1310-7.
|
||
Epub 2011 Jun 9
|
||
doi: 10.1039/c1pp05085k.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21655622" target="_blank">21655622</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10350189">Altered activity of heme biosynthesis pathway enzymes in individuals chronically exposed to arsenic in Mexico.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández-Zavala A,
|
||
Del Razo LM,
|
||
García-Vargas GG,
|
||
Aguilar C,
|
||
Borja VH,
|
||
Albores A,
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||
Cebrián ME</span><br />
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<span class="medgenPMjournal">Arch Toxicol</span>
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||
1999 Mar;73(2):90-5.
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||
doi: 10.1007/s002040050592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10350189" target="_blank">10350189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2500271">Protoporphyrinaemia and decreased activities of 5-aminolevulinic acid dehydrase and uroporphyrinogen I synthetase in erythrocytes of a Vitamin B6-deficient epileptic boy given valproic acid and carbamazepine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haust HL,
|
||
Poon HC,
|
||
Carson R,
|
||
VanDeWetering C,
|
||
Peter F</span><br />
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||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
1989 Jun;22(3):201-11.
|
||
doi: 10.1016/s0009-9120(89)80078-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2500271" target="_blank">2500271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3658064">Effect of aluminum on porphyrin metabolism in hemodialyzed patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchet JP,
|
||
Lauwerys R,
|
||
Hassoun A,
|
||
Dratwa M,
|
||
Wens R,
|
||
Collart F,
|
||
Tielemans C</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
1987;46(4):360-3.
|
||
doi: 10.1159/000184390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3658064" target="_blank">3658064</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19815305">Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Unzu C,
|
||
Sampedro A,
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||
Mauleón I,
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||
Vanrell L,
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||
Dubrot J,
|
||
de Salamanca RE,
|
||
González-Aseguinolaza G,
|
||
Melero I,
|
||
Prieto J,
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||
Fontanellas A</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2010 Mar;52(3):417-24.
|
||
Epub 2009 Sep 23
|
||
doi: 10.1016/j.jhep.2009.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19815305" target="_blank">19815305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10416826">The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, the enzyme that is deficient in intermittent acute porphyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tishler PV</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
1999;65(2):207-14.
|
||
doi: 10.1016/s0024-3205(99)00237-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10416826" target="_blank">10416826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10350189">Altered activity of heme biosynthesis pathway enzymes in individuals chronically exposed to arsenic in Mexico.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández-Zavala A,
|
||
Del Razo LM,
|
||
García-Vargas GG,
|
||
Aguilar C,
|
||
Borja VH,
|
||
Albores A,
|
||
Cebrián ME</span><br />
|
||
<span class="medgenPMjournal">Arch Toxicol</span>
|
||
1999 Mar;73(2):90-5.
|
||
doi: 10.1007/s002040050592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10350189" target="_blank">10350189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3658064">Effect of aluminum on porphyrin metabolism in hemodialyzed patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchet JP,
|
||
Lauwerys R,
|
||
Hassoun A,
|
||
Dratwa M,
|
||
Wens R,
|
||
Collart F,
|
||
Tielemans C</span><br />
|
||
<span class="medgenPMjournal">Nephron</span>
|
||
1987;46(4):360-3.
|
||
doi: 10.1159/000184390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3658064" target="_blank">3658064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7251856">Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson PM,
|
||
Reddy RM,
|
||
Anderson KE,
|
||
Desnick RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1981 Jul;68(1):1-12.
|
||
doi: 10.1172/jci110223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7251856" target="_blank">7251856</a><a href="/pmc/articles/PMC370766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%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 (6)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37773850">HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Lei JJ,
|
||
Dong BX,
|
||
Ren Y,
|
||
Yang J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Sep 29;102(39):e35144.
|
||
doi: 10.1097/MD.0000000000035144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37773850" target="_blank">37773850</a><a href="/pmc/articles/PMC10545320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20erythrocyte%20porphobilinogen%20deaminase%20activity%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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|
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2da30cde49f3df71336e1">Reduced erythrocyte porphobilinogen deaminase activity</a>
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