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<!--
|
||
UID=541208
|
||
ConceptID=C0268127
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn disorder of pyrimidine metabolism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>541208</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.">C0268127</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>Disorder of pyrimidine metabolism; disorder of pyrimidine metabolism; inborn disorder of pyrimidine metabolism; inborn error of pyrimidine nucleobase metabolic process; inborn pyrimidine nucleobase metabolic process disorder; pyrimidine metabolic disorder; rare inborn error of pyrimidine nucleobase metabolic process</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of pyrimidine metabolism (85444005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019238" target="_blank">MONDO:0019238</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=79193">ORPHA79193</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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">ANPM [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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><li><a href="#tabORDO">Orphanet</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">Inborn disorder of pyrimidine metabolism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Inborn disorder of pyrimidine metabolism</span><ul><li><span class="TLline"><a href="/medgen/226944" ref="tree=MeSH" title="MedGen record for Deficiency of beta-ureidopropionase">Deficiency of beta-ureidopropionase</a></span></li><li><span class="TLline"><a href="/medgen/904125" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 50">Developmental and epileptic encephalopathy, 50</a></span></li><li><span class="TLline"><a href="/medgen/83353" ref="tree=MeSH" title="MedGen record for Dihydropyrimidinase deficiency">Dihydropyrimidinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/776457" ref="tree=MeSH" title="MedGen record for Fluoropyrimidine response">Fluoropyrimidine response</a></span><ul><li><span class="TLline"><a href="/medgen/450435" ref="tree=MeSH" title="MedGen record for Capecitabine response">Capecitabine response</a></span></li><li><span class="TLline"><a href="/medgen/450455" ref="tree=MeSH" title="MedGen record for Fluorouracil response">Fluorouracil response</a></span></li><li><span class="TLline"><a href="/medgen/338948" ref="tree=MeSH" title="MedGen record for Tegafur response">Tegafur response</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/341470" ref="tree=MeSH" title="MedGen record for Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency">Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75702" ref="tree=MeSH" title="MedGen record for Hyper-beta-alaninemia">Hyper-beta-alaninemia</a></span></li><li><span class="TLline"><a href="/medgen/461100" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, myopathic form">Mitochondrial DNA depletion syndrome, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/78642" ref="tree=MeSH" title="MedGen record for Oroticaciduria">Oroticaciduria</a></span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11219&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Inborn disorder of pyrimidine metabolism</span> in Orphanet.</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/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
|
||
Ozlu MM,
|
||
Ceylaner S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Mar;202:106506.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.clineuro.2021.106506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9758612">Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arredondo-Vega FX,
|
||
Santisteban I,
|
||
Daniels S,
|
||
Toutain S,
|
||
Hershfield MS</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Oct;63(4):1049-59.
|
||
doi: 10.1086/302054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9758612" target="_blank">9758612</a><a href="/pmc/articles/PMC1377486" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/221806">Hyperuricemia and gout. Classification, complications and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boss GR,
|
||
Seegmiller JE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1979 Jun 28;300(26):1459-68.
|
||
doi: 10.1056/NEJM197906283002604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/221806" target="_blank">221806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20disorder%20of%20pyrimidine%20metabolism)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (25)</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/35216884">Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
|
||
Tylki-Szymanska A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Jul;136(3):164-176.
|
||
Epub 2022 Feb 19
|
||
doi: 10.1016/j.ymgme.2022.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35216884" target="_blank">35216884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257233">Orthopaedic Manifestations of Inborn Errors of Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad N,
|
||
Hamosh A,
|
||
Sponseller P</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2021 Jul 14;9(7)
|
||
doi: 10.2106/JBJS.RVW.20.00245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257233" target="_blank">34257233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32867370">GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
|
||
Benincore-Flórez E,
|
||
Solano-Galarza D,
|
||
Garzón Jaramillo RG,
|
||
Echeverri-Peña OY,
|
||
Suarez DA,
|
||
Alméciga-Díaz CJ,
|
||
Espejo-Mojica AJ</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Aug 27;21(17)
|
||
doi: 10.3390/ijms21176213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32867370" target="_blank">32867370</a><a href="/pmc/articles/PMC7503724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25112391">Adenylosuccinate lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
|
||
Zikanova M,
|
||
Kmoch S,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Mar;38(2):231-42.
|
||
Epub 2014 Aug 12
|
||
doi: 10.1007/s10545-014-9755-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25112391" target="_blank">25112391</a><a href="/pmc/articles/PMC4341013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6152513">Vitamin-responsive inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartlett K</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
1983;23:141-98.
|
||
doi: 10.1016/s0065-2423(08)60400-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6152513" target="_blank">6152513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20disorder%20of%20pyrimidine%20metabolism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (104)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35216884">Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
|
||
Tylki-Szymanska A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Jul;136(3):164-176.
|
||
Epub 2022 Feb 19
|
||
doi: 10.1016/j.ymgme.2022.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35216884" target="_blank">35216884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29680930">Splicing mutations in human genetic disorders: examples, detection, and confirmation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anna A,
|
||
Monika G</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Aug;59(3):253-268.
|
||
Epub 2018 Apr 21
|
||
doi: 10.1007/s13353-018-0444-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29680930" target="_blank">29680930</a><a href="/pmc/articles/PMC6060985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25112391">Adenylosuccinate lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
|
||
Zikanova M,
|
||
Kmoch S,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Mar;38(2):231-42.
|
||
Epub 2014 Aug 12
|
||
doi: 10.1007/s10545-014-9755-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25112391" target="_blank">25112391</a><a href="/pmc/articles/PMC4341013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3887130">Reye syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vivo DC</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
1985 Feb;3(1):95-115.
|
||
doi: 10.1016/S0733-8619(18)31058-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3887130" target="_blank">3887130</a><a href="/pmc/articles/PMC7135463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/803225">Neonatal nonhemolytic jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JD</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1975 Jan 23;292(4):194-7.
|
||
doi: 10.1056/NEJM197501232920406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/803225" target="_blank">803225</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20disorder%20of%20pyrimidine%20metabolism%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (245)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32867370">GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
|
||
Benincore-Flórez E,
|
||
Solano-Galarza D,
|
||
Garzón Jaramillo RG,
|
||
Echeverri-Peña OY,
|
||
Suarez DA,
|
||
Alméciga-Díaz CJ,
|
||
Espejo-Mojica AJ</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Aug 27;21(17)
|
||
doi: 10.3390/ijms21176213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32867370" target="_blank">32867370</a><a href="/pmc/articles/PMC7503724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32750333">Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gruber CN,
|
||
Calis JJA,
|
||
Buta S,
|
||
Evrony G,
|
||
Martin JC,
|
||
Uhl SA,
|
||
Caron R,
|
||
Jarchin L,
|
||
Dunkin D,
|
||
Phelps R,
|
||
Webb BD,
|
||
Saland JM,
|
||
Merad M,
|
||
Orange JS,
|
||
Mace EM,
|
||
Rosenberg BR,
|
||
Gelb BD,
|
||
Bogunovic D</span><br />
|
||
<span class="medgenPMjournal">Immunity</span>
|
||
2020 Sep 15;53(3):672-684.e11.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1016/j.immuni.2020.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32750333" target="_blank">32750333</a><a href="/pmc/articles/PMC7398039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6152513">Vitamin-responsive inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartlett K</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
1983;23:141-98.
|
||
doi: 10.1016/s0065-2423(08)60400-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6152513" target="_blank">6152513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/803225">Neonatal nonhemolytic jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JD</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1975 Jan 23;292(4):194-7.
|
||
doi: 10.1056/NEJM197501232920406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/803225" target="_blank">803225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4230059">Pharmacogenetics and anaesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bush GH</span><br />
|
||
<span class="medgenPMjournal">Proc R Soc Med</span>
|
||
1968 Feb;61(2):171-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4230059" target="_blank">4230059</a><a href="/pmc/articles/PMC1902253" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20disorder%20of%20pyrimidine%20metabolism%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (114)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37540500">Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Del Caño-Ochoa F,
|
||
Ng BG,
|
||
Rubio-Del-Campo A,
|
||
Mahajan S,
|
||
Wilson MP,
|
||
Vilar M,
|
||
Rymen D,
|
||
Sánchez-Pintos P,
|
||
Kenny J,
|
||
Ley Martos M,
|
||
Campos T,
|
||
Wortmann SB,
|
||
Freeze HH,
|
||
Ramón-Maiques S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Nov;46(6):1170-1185.
|
||
Epub 2023 Sep 11
|
||
doi: 10.1002/jimd.12667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37540500" target="_blank">37540500</a><a href="/pmc/articles/PMC10838372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35063692">Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torun B,
|
||
Bilgin A,
|
||
Orhan D,
|
||
Gocmen R,
|
||
Kılıc SS,
|
||
Kuskonmaz B,
|
||
Cetinkaya D,
|
||
Tezcan I,
|
||
Cagdas D</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Mar;65(3):104428.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1016/j.ejmg.2022.104428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35063692" target="_blank">35063692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29680930">Splicing mutations in human genetic disorders: examples, detection, and confirmation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anna A,
|
||
Monika G</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Aug;59(3):253-268.
|
||
Epub 2018 Apr 21
|
||
doi: 10.1007/s13353-018-0444-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29680930" target="_blank">29680930</a><a href="/pmc/articles/PMC6060985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25112391">Adenylosuccinate lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
|
||
Zikanova M,
|
||
Kmoch S,
|
||
Tylki-Szymańska A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Mar;38(2):231-42.
|
||
Epub 2014 Aug 12
|
||
doi: 10.1007/s10545-014-9755-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25112391" target="_blank">25112391</a><a href="/pmc/articles/PMC4341013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9208410">Dihydropyrimidinase deficiency, a progressive neurological disorder?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Putman CW,
|
||
Rotteveel JJ,
|
||
Wevers RA,
|
||
van Gennip AH,
|
||
Bakkeren JA,
|
||
De Abreu RA</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1997 Apr;28(2):106-10.
|
||
doi: 10.1055/s-2007-973681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9208410" target="_blank">9208410</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20disorder%20of%20pyrimidine%20metabolism%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33347837">Inborn errors of immunity associated with characteristic phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardou MLD,
|
||
Henriques MT,
|
||
Grumach AS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
|
||
2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83.
|
||
Epub 2020 Dec 19
|
||
doi: 10.1016/j.jped.2020.10.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33347837" target="_blank">33347837</a><a href="/pmc/articles/PMC9432272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30017355">Serine Synthesis via PHGDH Is Essential for Heme Production in Endothelial Cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandekeere S,
|
||
Dubois C,
|
||
Kalucka J,
|
||
Sullivan MR,
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García-Caballero M,
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Goveia J,
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Chen R,
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Diehl FF,
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Bar-Lev L,
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Souffreau J,
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Pircher A,
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Kumar S,
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Vinckier S,
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Hirabayashi Y,
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Furuya S,
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Schoonjans L,
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Eelen G,
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Keshet E,
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Dewerchin M,
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Carmeliet P</span><br />
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<span class="medgenPMjournal">Cell Metab</span>
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2018 Oct 2;28(4):573-587.e13.
|
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Epub 2018 Jul 12
|
||
doi: 10.1016/j.cmet.2018.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017355" target="_blank">30017355</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29680930">Splicing mutations in human genetic disorders: examples, detection, and confirmation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Anna A,
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Monika G</span><br />
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<span class="medgenPMjournal">J Appl Genet</span>
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||
2018 Aug;59(3):253-268.
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||
Epub 2018 Apr 21
|
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doi: 10.1007/s13353-018-0444-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29680930" target="_blank">29680930</a><a href="/pmc/articles/PMC6060985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25112391">Adenylosuccinate lyase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jurecka A,
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||
Zikanova M,
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Kmoch S,
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Tylki-Szymańska A</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2015 Mar;38(2):231-42.
|
||
Epub 2014 Aug 12
|
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doi: 10.1007/s10545-014-9755-y.
|
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<span class="bold">PMID: </span><a href="/pubmed/25112391" target="_blank">25112391</a><a href="/pmc/articles/PMC4341013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mayo MJ</span><br />
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<span class="medgenPMjournal">Curr Opin Gastroenterol</span>
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||
2011 May;27(3):224-30.
|
||
doi: 10.1097/MOG.0b013e3283457ce0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21451411" target="_blank">21451411</a></div>
|
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Masnada S,
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Ville D,
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Valente M,
|
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|
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|
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|
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<span class="medgenPMjournal">Epilepsia Open</span>
|
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2024 Feb;9(1):106-121.
|
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Epub 2023 Nov 27
|
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doi: 10.1002/epi4.12837.
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|
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Stockler S</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
|
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2012 Mar;105(3):368-81.
|
||
Epub 2011 Nov 30
|
||
doi: 10.1016/j.ymgme.2011.11.191.
|
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<span class="bold">PMID: </span><a href="/pubmed/22212131" target="_blank">22212131</a></div>
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