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<!--
|
||
UID=1852368
|
||
ConceptID=C5848153
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoxanthine-guanine phosphoribosyltransferase deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1852368</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.">C5848153</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>HPRT DEFICIENCY; HPRT1 DEFICIENCY; Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of hypoxanthine-guanine phosphoribosyltransferase (124275001); Deficiency of guanine phosphoribosyltransferase (124275001); Deficiency of IMP pyrophosphorylase (124275001); Deficiency of hypoxanthine phosphoribosyltransferase (124275001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/3251">HPRT1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016088" target="_blank">MONDO:0016088</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=206428">ORPHA206428</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>
|
||
<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">The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<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></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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848153[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1852368">C</a></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">Hypoxanthine-guanine phosphoribosyltransferase deficiency</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023374[DISCUI]&test_type=Clinical" ref="ncbi_uid=9721">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9721" target="_blank" href="/omim/300322">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1149/" ref="ncbi_uid=9721">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9721" ref="ncbi_uid=9721">V</a></span></span><span class="TLline"><a href="/medgen/9721" ref="tree=GTR&ncbi_uid=9721&link_uid=9721" title="View MedGen record for 'Lesch-Nyhan syndrome'">Lesch-Nyhan syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268117[DISCUI]&test_type=Clinical" ref="ncbi_uid=82770">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82770" target="_blank" href="/omim/300323">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1149/" ref="ncbi_uid=82770">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82770" ref="ncbi_uid=82770">V</a></span></span><span class="TLline"><a href="/medgen/82770" ref="tree=GTR&ncbi_uid=82770&link_uid=82770" title="View MedGen record for 'Partial hypoxanthine-guanine phosphoribosyltransferase deficiency'">Partial hypoxanthine-guanine phosphoribosyltransferase deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Hypoxanthine-guanine phosphoribosyltransferase deficiency</span><ul><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82770" ref="tree=MeSH" title="MedGen record for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency">Partial hypoxanthine-guanine phosphoribosyltransferase deficiency</a></span></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/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
|
||
Feinstein J,
|
||
Romani P,
|
||
Goldson E,
|
||
Blackmer A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2019 Jun;39(6):645-664.
|
||
Epub 2019 Mar 27
|
||
doi: 10.1002/phar.2238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14558024">Prenatal diagnosis of Lesch-Nyhan disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL,
|
||
Vuong LU,
|
||
Broock R</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Oct;23(10):807-9.
|
||
doi: 10.1002/pd.691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14558024" target="_blank">14558024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4558815">Diagnosis and treatment of the Lesch-Nyhan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawhall JC,
|
||
Henderson JF,
|
||
Kelley WN</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1972 May;6(5):504-13.
|
||
doi: 10.1203/00006450-197205000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4558815" target="_blank">4558815</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypoxanthine-guanine%20phosphoribosyltransferase%20deficiency)%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 (44)</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/24940674">Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castro M,
|
||
Carrillo R,
|
||
García F,
|
||
Sanz P,
|
||
Ferrer I,
|
||
Ruiz-Sala P,
|
||
Vega AI,
|
||
Ruíz Desviat L,
|
||
Pérez B,
|
||
Pérez-Cerdá C,
|
||
Merinero B,
|
||
Ugarte M</span><br />
|
||
<span class="medgenPMjournal">Nucleosides Nucleotides Nucleic Acids</span>
|
||
2014;33(4-6):233-40.
|
||
doi: 10.1080/15257770.2013.854381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24940674" target="_blank">24940674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20176575">Attenuated variants of Lesch-Nyhan disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
|
||
Ceballos-Picot I,
|
||
Torres RJ,
|
||
Visser JE,
|
||
Schretlen DJ,
|
||
Verdu A,
|
||
Laróvere LE,
|
||
Chen CJ,
|
||
Cossu A,
|
||
Wu CH,
|
||
Sampat R,
|
||
Chang SJ,
|
||
de Kremer RD,
|
||
Nyhan W,
|
||
Harris JC,
|
||
Reich SG,
|
||
Puig JG;
|
||
Lesch-Nyhan Disease International Study Group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2010 Mar;133(Pt 3):671-89.
|
||
Epub 2010 Feb 22
|
||
doi: 10.1093/brain/awq013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20176575" target="_blank">20176575</a><a href="/pmc/articles/PMC2842514" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17697859">Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
|
||
Prior C,
|
||
Puig JG</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2007 Sep;56(9):1179-86.
|
||
doi: 10.1016/j.metabol.2007.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17697859" target="_blank">17697859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4747812">An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Bruyn CH,
|
||
Oei TL,
|
||
Geerdink RA,
|
||
Lommen EJ</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1973;4(4):353-9.
|
||
doi: 10.1111/j.1399-0004.1973.tb01931.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4747812" target="_blank">4747812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5411648">Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene ML,
|
||
Nyhan WL,
|
||
Seegmiller JE</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1970 Jan;22(1):50-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5411648" target="_blank">5411648</a><a href="/pmc/articles/PMC1706515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoxanthine-guanine%20phosphoribosyltransferase%20deficiency%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37283101">Research progress on renal calculus associate with inborn error of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song Y,
|
||
Zhao C,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2023 Apr 25;52(2):169-177.
|
||
doi: 10.3724/zdxbyxb-2022-0698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37283101" target="_blank">37283101</a><a href="/pmc/articles/PMC10293781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28782500">Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
|
||
Puente S,
|
||
Menendez A,
|
||
Fernandez-Garcia N</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2017 Sep;472:136-138.
|
||
Epub 2017 Aug 3
|
||
doi: 10.1016/j.cca.2017.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28782500" target="_blank">28782500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20176575">Attenuated variants of Lesch-Nyhan disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
|
||
Ceballos-Picot I,
|
||
Torres RJ,
|
||
Visser JE,
|
||
Schretlen DJ,
|
||
Verdu A,
|
||
Laróvere LE,
|
||
Chen CJ,
|
||
Cossu A,
|
||
Wu CH,
|
||
Sampat R,
|
||
Chang SJ,
|
||
de Kremer RD,
|
||
Nyhan W,
|
||
Harris JC,
|
||
Reich SG,
|
||
Puig JG;
|
||
Lesch-Nyhan Disease International Study Group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2010 Mar;133(Pt 3):671-89.
|
||
Epub 2010 Feb 22
|
||
doi: 10.1093/brain/awq013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20176575" target="_blank">20176575</a><a href="/pmc/articles/PMC2842514" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6720419">Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cameron JS,
|
||
Simmonds HA,
|
||
Webster DR,
|
||
Wass V,
|
||
Sahota A</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
1984;165 Pt A:7-12.
|
||
doi: 10.1007/978-1-4684-4553-4_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6720419" target="_blank">6720419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4747811">An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geerdink RA,
|
||
de Vries WH,
|
||
Willemse J,
|
||
Oei TL,
|
||
de Bruyn CH</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1973;4(4):348-52.
|
||
doi: 10.1111/j.1399-0004.1973.tb01930.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4747811" target="_blank">4747811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoxanthine-guanine%20phosphoribosyltransferase%20deficiency%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 (23)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17891542">Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishida Y,
|
||
Ishimaru A,
|
||
Tauchi H,
|
||
Yamaguchi A,
|
||
Yokoyama M,
|
||
Hiroi K,
|
||
Wakamatsu N,
|
||
Yamada Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2008 Aug;167(8):957-9.
|
||
Epub 2007 Sep 21
|
||
doi: 10.1007/s00431-007-0607-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17891542" target="_blank">17891542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17697859">Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
|
||
Prior C,
|
||
Puig JG</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2007 Sep;56(9):1179-86.
|
||
doi: 10.1016/j.metabol.2007.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17697859" target="_blank">17697859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4830404">The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lommen EJ,
|
||
de Abreu RA,
|
||
Trijbels JM,
|
||
Schretlen ED</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Scand</span>
|
||
1974 Jan;63(1):140-2.
|
||
doi: 10.1111/j.1651-2227.1974.tb04362.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4830404" target="_blank">4830404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5441549">Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorensen LB</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1970 May;49(5):968-78.
|
||
doi: 10.1172/JCI106316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5441549" target="_blank">5441549</a><a href="/pmc/articles/PMC535769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5663935">X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreifuss FE,
|
||
Newcombe DS,
|
||
Shapiro SL,
|
||
Sheppard GL</span><br />
|
||
<span class="medgenPMjournal">J Ment Defic Res</span>
|
||
1968 Jun;12(2):100-7.
|
||
doi: 10.1111/j.1365-2788.1968.tb00248.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5663935" target="_blank">5663935</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoxanthine-guanine%20phosphoribosyltransferase%20deficiency%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17697859">Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
|
||
Prior C,
|
||
Puig JG</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2007 Sep;56(9):1179-86.
|
||
doi: 10.1016/j.metabol.2007.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17697859" target="_blank">17697859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1937471">Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sculley DG,
|
||
Dawson PA,
|
||
Beacham IR,
|
||
Emmerson BT,
|
||
Gordon RB</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1991 Oct;87(6):688-92.
|
||
doi: 10.1007/BF00201727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1937471" target="_blank">1937471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2909537">Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davidson BL,
|
||
Pashmforoush M,
|
||
Kelley WN,
|
||
Palella TD</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
1989 Jan 5;264(1):520-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2909537" target="_blank">2909537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3384338">Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davidson BL,
|
||
Pashmforoush M,
|
||
Kelley WN,
|
||
Palella TD</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
1988 Mar 31;63(2):331-6.
|
||
doi: 10.1016/0378-1119(88)90536-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3384338" target="_blank">3384338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5283941">Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimoto WY,
|
||
Subak-Sharpe JH,
|
||
Seegmiller JE</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1971 Jul;68(7):1516-9.
|
||
doi: 10.1073/pnas.68.7.1516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5283941" target="_blank">5283941</a><a href="/pmc/articles/PMC389230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoxanthine-guanine%20phosphoribosyltransferase%20deficiency%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25482009">Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa H,
|
||
Shinohara Y,
|
||
Nozaki S,
|
||
Nakamura M,
|
||
Oh K,
|
||
Namiki O,
|
||
Suzuki K,
|
||
Nakahara A,
|
||
Miyazawa M,
|
||
Ishikawa K,
|
||
Himeno T,
|
||
Yoshida S,
|
||
Ueda T,
|
||
Yamada Y,
|
||
Ichida K</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2015 Jan 22;976-977:55-60.
|
||
Epub 2014 Nov 24
|
||
doi: 10.1016/j.jchromb.2014.11.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25482009" target="_blank">25482009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11771623">Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schretlen DJ,
|
||
Harris JC,
|
||
Park KS,
|
||
Jinnah HA,
|
||
del Pozo NO</span><br />
|
||
<span class="medgenPMjournal">J Int Neuropsychol Soc</span>
|
||
2001 Nov;7(7):805-12.
|
||
doi: 10.1017/s135561770177703x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11771623" target="_blank">11771623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3384338">Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davidson BL,
|
||
Pashmforoush M,
|
||
Kelley WN,
|
||
Palella TD</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
1988 Mar 31;63(2):331-6.
|
||
doi: 10.1016/0378-1119(88)90536-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3384338" target="_blank">3384338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1155984">Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunn DN,
|
||
Moss IK,
|
||
Nicholls A,
|
||
Scott JT,
|
||
Snaith ML,
|
||
Watson MR</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
1975 Jun;34(3):249-55.
|
||
doi: 10.1136/ard.34.3.249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1155984" target="_blank">1155984</a><a href="/pmc/articles/PMC1006406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5283941">Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujimoto WY,
|
||
Subak-Sharpe JH,
|
||
Seegmiller JE</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1971 Jul;68(7):1516-9.
|
||
doi: 10.1073/pnas.68.7.1516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5283941" target="_blank">5283941</a><a href="/pmc/articles/PMC389230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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