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<!--
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UID=1671015
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ConceptID=C4732917
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal urine carboxylic acid level</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1671015</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.">C4732917</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:0031980">HP:0031980</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Any deviation from the normal concentration of a carboxylic acid in the urine. [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 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>
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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">Abnormal urine carboxylic acid level</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1785188" ref="tree=MeSH" title="MedGen record for Abnormal urine metabolite level">Abnormal urine metabolite level</a></span><ul><li><span class="matched_ds">Abnormal urine carboxylic acid level</span><ul><li><span class="TLline"><a href="/medgen/777186" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria">3-Methylglutaconic aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/90994" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 1">3-methylglutaconic aciduria type 1</a></span></li><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/108273" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 3">3-Methylglutaconic aciduria type 3</a></span></li><li><span class="TLline"><a href="/medgen/344425" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 4">3-methylglutaconic aciduria type 4</a></span></li><li><span class="TLline"><a href="/medgen/347542" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 5">3-methylglutaconic aciduria type 5</a></span></li><li><span class="TLline"><a href="/medgen/934617" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 8">3-methylglutaconic aciduria type 8</a></span></li><li><span class="TLline"><a href="/medgen/1622927" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 9">3-methylglutaconic aciduria type 9</a></span></li><li><span class="TLline"><a href="/medgen/873604" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1810214" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria, type VIIB">3-methylglutaconic aciduria, type VIIB</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/463302" ref="tree=MeSH" title="MedGen record for 3-Methylglutaric aciduria">3-Methylglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1863514" ref="tree=MeSH" title="MedGen record for Abnormal urinary bile acid level">Abnormal urinary bile acid level</a></span></li><li><span class="TLline"><a href="/medgen/1687494" ref="tree=MeSH" title="MedGen record for Carnitinuria">Carnitinuria</a></span></li><li><span class="TLline"><a href="/medgen/1863526" ref="tree=MeSH" title="MedGen record for Decreased urinary bile acid level">Decreased urinary bile acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863662" ref="tree=MeSH" title="MedGen record for Elevated urinary 3-hydroxyisobutyric acid level">Elevated urinary 3-hydroxyisobutyric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863953" ref="tree=MeSH" title="MedGen record for Elevated urinary bile acid level">Elevated urinary bile acid level</a></span></li><li><span class="TLline"><a href="/medgen/868022" ref="tree=MeSH" title="MedGen record for Elevated urinary carboxylic acid">Elevated urinary carboxylic acid</a></span><ul><li><span class="TLline"><a href="/medgen/1864117" ref="tree=MeSH" title="MedGen record for 2--hydroxyphenylacetic aciduria">2--hydroxyphenylacetic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1780879" ref="tree=MeSH" title="MedGen record for 2-ethylhydracylic aciduria">2-ethylhydracylic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/376417" ref="tree=MeSH" title="MedGen record for 4-hydroxyphenylacetic aciduria">4-hydroxyphenylacetic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/341282" ref="tree=MeSH" title="MedGen record for 4-hydroxyphenyllactic aciduria">4-hydroxyphenyllactic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/376416" ref="tree=MeSH" title="MedGen record for 4-Hydroxyphenylpyruvic aciduria">4-Hydroxyphenylpyruvic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1692971" ref="tree=MeSH" title="MedGen record for Alpha-aminobutyric aciduria">Alpha-aminobutyric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1864039" ref="tree=MeSH" title="MedGen record for Cone-shaped distal tibial epiphysis">Cone-shaped distal tibial epiphysis</a></span></li><li><span class="TLline"><a href="/medgen/343550" ref="tree=MeSH" title="MedGen record for Dicarboxylic aciduria">Dicarboxylic aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/1842134" ref="tree=MeSH" title="MedGen record for 2-hydroxyadipic aciduria">2-hydroxyadipic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1689600" ref="tree=MeSH" title="MedGen record for 2-hydroxyglutarate aciduria">2-hydroxyglutarate aciduria</a></span></li><li><span class="TLline"><a href="/medgen/860375" ref="tree=MeSH" title="MedGen record for 2-oxoadipic aciduria">2-oxoadipic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/870283" ref="tree=MeSH" title="MedGen record for 3-hydroxydicarboxylic aciduria">3-hydroxydicarboxylic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1054445" ref="tree=MeSH" title="MedGen record for Elevated urinary 2,4-dihydroxyglutarate level">Elevated urinary 2,4-dihydroxyglutarate level</a></span></li><li><span class="TLline"><a href="/medgen/1863608" ref="tree=MeSH" title="MedGen record for Elevated urinary 3-hydroxyadipic acid level">Elevated urinary 3-hydroxyadipic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1056880" ref="tree=MeSH" title="MedGen record for Elevated urinary adipic acid">Elevated urinary adipic acid</a></span></li><li><span class="TLline"><a href="/medgen/1841630" ref="tree=MeSH" title="MedGen record for Elevated urinary formiminoglutamic acid level">Elevated urinary formiminoglutamic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841665" ref="tree=MeSH" title="MedGen record for Elevated urine 3,6-epoxydicarboxylic acid level">Elevated urine 3,6-epoxydicarboxylic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841727" ref="tree=MeSH" title="MedGen record for Elevated urine 3-hydroxyglutaric level">Elevated urine 3-hydroxyglutaric level</a></span></li><li><span class="TLline"><a href="/medgen/1863947" ref="tree=MeSH" title="MedGen record for Elevated urine 3-methyladipic acid level">Elevated urine 3-methyladipic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1842100" ref="tree=MeSH" title="MedGen record for Elevated urine fumaric acid level">Elevated urine fumaric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841573" ref="tree=MeSH" title="MedGen record for Elevated urine glutaconic acid level">Elevated urine glutaconic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1053192" ref="tree=MeSH" title="MedGen record for Elevated urine malic acid level">Elevated urine malic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841822" ref="tree=MeSH" title="MedGen record for Elevated urine malonic acid level">Elevated urine malonic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863641" ref="tree=MeSH" title="MedGen record for Elevated urine mesaconic acid level">Elevated urine mesaconic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841567" ref="tree=MeSH" title="MedGen record for Elevated urine octenedioic acid level">Elevated urine octenedioic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1738538" ref="tree=MeSH" title="MedGen record for Elevated urine suberic acid level">Elevated urine suberic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863423" ref="tree=MeSH" title="MedGen record for Elevated urine succinic acid level">Elevated urine succinic acid level</a></span></li><li><span class="TLline"><a href="/medgen/355967" ref="tree=MeSH" title="MedGen record for Ethylmalonic aciduria">Ethylmalonic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/75695" ref="tree=MeSH" title="MedGen record for Glutaric aciduria">Glutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/419319" ref="tree=MeSH" title="MedGen record for Hawkinsinuria">Hawkinsinuria</a></span></li><li><span class="TLline"><a href="/medgen/1647053" ref="tree=MeSH" title="MedGen record for Increased level of 3-hydroxy-3-methylglutaric acid in urine">Increased level of 3-hydroxy-3-methylglutaric acid in urine</a></span></li><li><span class="TLline"><a href="/medgen/1647447" ref="tree=MeSH" title="MedGen record for Increased level of methylsuccinic acid in urine">Increased level of methylsuccinic acid in urine</a></span></li><li><span class="TLline"><a href="/medgen/1842127" ref="tree=MeSH" title="MedGen record for Increased urinary hexanoic acid level">Increased urinary hexanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/868601" ref="tree=MeSH" title="MedGen record for Increased urinary porphobilinogen">Increased urinary porphobilinogen</a></span></li><li><span class="TLline"><a href="/medgen/1771435" ref="tree=MeSH" title="MedGen record for Increased urine succinate level">Increased urine succinate level</a></span></li><li><span class="TLline"><a href="/medgen/324757" ref="tree=MeSH" title="MedGen record for Long-chain dicarboxylic aciduria">Long-chain dicarboxylic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/349718" ref="tree=MeSH" title="MedGen record for Medium chain dicarboxylic aciduria">Medium chain dicarboxylic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/343266" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria">Methylmalonic aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1782488" ref="tree=MeSH" title="MedGen record for Elevated urinary 3-methylcrotonylglycine level">Elevated urinary 3-methylcrotonylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/1863572" ref="tree=MeSH" title="MedGen record for Elevated urinary 5-hydroxyhexanoic acid level">Elevated urinary 5-hydroxyhexanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864386" ref="tree=MeSH" title="MedGen record for Elevated urinary 5-hydroxyindoleacetic acid level">Elevated urinary 5-hydroxyindoleacetic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864315" ref="tree=MeSH" title="MedGen record for Elevated urinary butyric acid level">Elevated urinary butyric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864417" ref="tree=MeSH" title="MedGen record for Elevated urinary glutarylglycine level">Elevated urinary glutarylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/866486" ref="tree=MeSH" title="MedGen record for Elevated urinary homovanillic acid">Elevated urinary homovanillic acid</a></span></li><li><span class="TLline"><a href="/medgen/1863546" ref="tree=MeSH" title="MedGen record for Elevated urinary indoleacetic acid level">Elevated urinary indoleacetic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1781693" ref="tree=MeSH" title="MedGen record for Elevated urinary monocarboxylic acid level">Elevated urinary monocarboxylic acid level</a></span><ul><li><span class="TLline"><a href="/medgen/1053014" ref="tree=MeSH" title="MedGen record for Elevated urinary 2,4-dihydroxybutyric acid level">Elevated urinary 2,4-dihydroxybutyric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1779483" ref="tree=MeSH" title="MedGen record for Elevated urinary 2-hydroxybutyric acid">Elevated urinary 2-hydroxybutyric acid</a></span></li><li><span class="TLline"><a href="/medgen/868023" ref="tree=MeSH" title="MedGen record for Elevated urinary 3-hydroxybutyric acid">Elevated urinary 3-hydroxybutyric acid</a></span></li><li><span class="TLline"><a href="/medgen/1697012" ref="tree=MeSH" title="MedGen record for Elevated urinary 4-hydroxybutyric acid">Elevated urinary 4-hydroxybutyric acid</a></span></li><li><span class="TLline"><a href="/medgen/1863530" ref="tree=MeSH" title="MedGen record for Elevated urinary glycolic acid level">Elevated urinary glycolic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864054" ref="tree=MeSH" title="MedGen record for Elevated urinary glyoxylic acid level">Elevated urinary glyoxylic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1789056" ref="tree=MeSH" title="MedGen record for Elevated urinary homogentisic acid">Elevated urinary homogentisic acid</a></span></li><li><span class="TLline"><a href="/medgen/1054702" ref="tree=MeSH" title="MedGen record for Elevated urinary mandelic acid">Elevated urinary mandelic acid</a></span></li><li><span class="TLline"><a href="/medgen/1863513" ref="tree=MeSH" title="MedGen record for Elevated urinary N-carbamyl-beta-aminoisobutyric acid level">Elevated urinary N-carbamyl-beta-aminoisobutyric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864334" ref="tree=MeSH" title="MedGen record for Elevated urinary ureidoisobutyric acid level">Elevated urinary ureidoisobutyric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863865" ref="tree=MeSH" title="MedGen record for Elevated urinary ureidopropionic acid level">Elevated urinary ureidopropionic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1782934" ref="tree=MeSH" title="MedGen record for Elevated urine keto acid level">Elevated urine keto acid level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1693101" ref="tree=MeSH" title="MedGen record for Elevated urinary N-butyrylglycine">Elevated urinary N-butyrylglycine</a></span></li><li><span class="TLline"><a href="/medgen/1841861" ref="tree=MeSH" title="MedGen record for Elevated urinary phenylpyruvic acid level">Elevated urinary phenylpyruvic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863700" ref="tree=MeSH" title="MedGen record for Elevated urinary pyrroline hydroxycarboxylic acid level">Elevated urinary pyrroline hydroxycarboxylic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1053759" ref="tree=MeSH" title="MedGen record for Elevated urinary vanillactic acid level">Elevated urinary vanillactic acid level</a></span></li><li><span class="TLline"><a href="/medgen/866485" ref="tree=MeSH" title="MedGen record for Elevated urinary vanillylmandelic acid">Elevated urinary vanillylmandelic acid</a></span></li><li><span class="TLline"><a href="/medgen/1863623" ref="tree=MeSH" title="MedGen record for Elevated urinary xanthurenic acid level">Elevated urinary xanthurenic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1842153" ref="tree=MeSH" title="MedGen record for Elevated urine 2-hydroxy-3-methylvaleric acid level">Elevated urine 2-hydroxy-3-methylvaleric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841959" ref="tree=MeSH" title="MedGen record for Elevated urine 2-methylcitric acid level">Elevated urine 2-methylcitric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1054861" ref="tree=MeSH" title="MedGen record for Elevated urine 3-hydroxysebacic acid level">Elevated urine 3-hydroxysebacic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1053449" ref="tree=MeSH" title="MedGen record for Elevated urine 4,5-dihydroxyhexanoic acid level">Elevated urine 4,5-dihydroxyhexanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841944" ref="tree=MeSH" title="MedGen record for Elevated urine kynurenine level">Elevated urine kynurenine level</a></span></li><li><span class="TLline"><a href="/medgen/1712812" ref="tree=MeSH" title="MedGen record for Elevated urine mevalonic acid level">Elevated urine mevalonic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841865" ref="tree=MeSH" title="MedGen record for Elevated urine propionylglycine level">Elevated urine propionylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/1841998" ref="tree=MeSH" title="MedGen record for Elevated urine tiglylglycine level">Elevated urine tiglylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/1841829" ref="tree=MeSH" title="MedGen record for Monocarboxylic aciduria">Monocarboxylic aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/1863801" ref="tree=MeSH" title="MedGen record for Elevated urinary 3-hydroxypentanoic acid level">Elevated urinary 3-hydroxypentanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864037" ref="tree=MeSH" title="MedGen record for Elevated urinary 7-hydroxyoctanoic acid level">Elevated urinary 7-hydroxyoctanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1864263" ref="tree=MeSH" title="MedGen record for Elevated urinary L-glycerate level">Elevated urinary L-glycerate level</a></span></li><li><span class="TLline"><a href="/medgen/1863657" ref="tree=MeSH" title="MedGen record for Elevated urinary pipecolic acid level">Elevated urinary pipecolic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863541" ref="tree=MeSH" title="MedGen record for Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level">Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1842161" ref="tree=MeSH" title="MedGen record for Elevated urine 2-methylacetoacetic acid level">Elevated urine 2-methylacetoacetic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1841876" ref="tree=MeSH" title="MedGen record for Elevated urine 3-hydroxypropionic acid level">Elevated urine 3-hydroxypropionic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1842135" ref="tree=MeSH" title="MedGen record for Elevated urine 4-hydroxyisovaleric acid level">Elevated urine 4-hydroxyisovaleric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1842109" ref="tree=MeSH" title="MedGen record for Elevated urine octanoic acid level">Elevated urine octanoic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1863713" ref="tree=MeSH" title="MedGen record for Elevated urine propionic acid level">Elevated urine propionic acid level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120644" ref="tree=MeSH" title="MedGen record for Urocanate hydratase deficiency">Urocanate hydratase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864082" ref="tree=MeSH" title="MedGen record for Elevated urinary D-glyceric acid level">Elevated urinary D-glyceric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1735652" ref="tree=MeSH" title="MedGen record for Elevated urine aconitic acid level">Elevated urine aconitic acid level</a></span></li><li><span class="TLline"><a href="/medgen/1670965" ref="tree=MeSH" title="MedGen record for Elevated urine glycolate">Elevated urine glycolate</a></span></li><li><span class="TLline"><a href="/medgen/1841719" ref="tree=MeSH" title="MedGen record for Elevated urine phenylpropionylglycine level">Elevated urine phenylpropionylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/1841850" ref="tree=MeSH" title="MedGen record for Elevated urine suberylglycine level">Elevated urine suberylglycine level</a></span></li><li><span class="TLline"><a href="/medgen/1640306" ref="tree=MeSH" title="MedGen record for Increased level of hippuric acid in urine">Increased level of hippuric acid in urine</a></span></li><li><span class="TLline"><a href="/medgen/1864244" ref="tree=MeSH" title="MedGen record for Increased urinary bile acid level">Increased urinary bile acid level</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></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/36207831">Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
|
||
Liang L,
|
||
Ling S,
|
||
Yu Y,
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||
Chen T,
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||
Xu F,
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||
Gong Z,
|
||
Han L</span><br />
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<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2022 Jun 25;51(3):298-305.
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||
doi: 10.3724/zdxbyxb-2022-0194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36207831" target="_blank">36207831</a><a href="/pmc/articles/PMC9511482" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
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||
Nakashima M,
|
||
Wong S</span><br />
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<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2021 Sep 1;7(9):1383-1391.
|
||
doi: 10.1001/jamaoncol.2021.0586.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/31154910">Clinical and Metabolic Correlates of Calcium Oxalate Stone Subtypes: Implications for Etiology and Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bamberger JN,
|
||
Blum KA,
|
||
Kan KM,
|
||
Parkhomenko E,
|
||
Gallante B,
|
||
Gupta M</span><br />
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||
<span class="medgenPMjournal">J Endourol</span>
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||
2019 Sep;33(9):755-760.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1089/end.2019.0245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31154910" target="_blank">31154910</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20urine%20carboxylic%20acid%20level)%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 (32)</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/36153722">Scurvy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krečak I,
|
||
Babić G,
|
||
Skelin M</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
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||
2022 Jul;30(1):59-60.
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||
<span class="bold">PMID: </span><a href="/pubmed/36153722" target="_blank">36153722</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/33161342">MRI demonstration of gadolinium deposition in bone after monthly triple-dose gadopentetate dimeglumine and correlation with frequency of hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bageac D,
|
||
DeBevits JJ,
|
||
Munbodh R,
|
||
Kaplan J,
|
||
Wu R,
|
||
DiCamillo PA,
|
||
Hu C,
|
||
Wang Y,
|
||
Karimeddini D,
|
||
Naismith RT,
|
||
Dhib-Jalbut S,
|
||
Wolansky L</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
2021 Feb;70:136-141.
|
||
Epub 2020 Jul 30
|
||
doi: 10.1016/j.clinimag.2020.07.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33161342" target="_blank">33161342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30843003">More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pianou NK,
|
||
Stavrou PZ,
|
||
Vlontzou E,
|
||
Rondogianni P,
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Exarhos DN,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20urine%20carboxylic%20acid%20level%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 (229)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30843003">More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pianou NK,
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Stavrou PZ,
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Vlontzou E,
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Rondogianni P,
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<span class="bold">PMID: </span><a href="/pubmed/30843003" target="_blank">30843003</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36387907">Metabolomics of various samples advancing biomarker discovery and pathogenesis elucidation for diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Du X,
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<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
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Nakashima M,
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Wong S</span><br />
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doi: 10.1001/jamaoncol.2021.0586.
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<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30843003">More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pianou NK,
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Stavrou PZ,
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Vlontzou E,
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Rondogianni P,
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Exarhos DN,
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Datseris IE</span><br />
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<span class="medgenPMjournal">Hell J Nucl Med</span>
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2019 Jan-Apr;22(1):6-9.
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Epub 2019 Mar 7
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doi: 10.1967/s002449910952.
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<span class="bold">PMID: </span><a href="/pubmed/30843003" target="_blank">30843003</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20urine%20carboxylic%20acid%20level%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 (103)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36813311">Laboratory and metabolic investigations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morava E,
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Oglesbee D</span><br />
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doi: 10.1016/B978-0-12-821751-1.00012-9.
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<span class="bold">PMID: </span><a href="/pubmed/36813311" target="_blank">36813311</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34081097">Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khouri J,
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Nakashima M,
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Wong S</span><br />
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<span class="medgenPMjournal">JAMA Oncol</span>
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2021 Sep 1;7(9):1383-1391.
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doi: 10.1001/jamaoncol.2021.0586.
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<span class="bold">PMID: </span><a href="/pubmed/34081097" target="_blank">34081097</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30843003">More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pianou NK,
|
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Stavrou PZ,
|
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Vlontzou E,
|
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Rondogianni P,
|
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Exarhos DN,
|
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Datseris IE</span><br />
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<span class="medgenPMjournal">Hell J Nucl Med</span>
|
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2019 Jan-Apr;22(1):6-9.
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Epub 2019 Mar 7
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doi: 10.1967/s002449910952.
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<span class="bold">PMID: </span><a href="/pubmed/30843003" target="_blank">30843003</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27817975">Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6779102">DOPA metabolism in neuroblastoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Helson L,
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Johnson GA,
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Smith R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/6779102" target="_blank">6779102</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20urine%20carboxylic%20acid%20level%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 (156)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/33674970">Association between prenatal phthalate exposure and gestational metabolic syndrome parameters: a systematic review of epidemiological studies.</a></div>
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Zhang C,
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Tao FB</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33674970" target="_blank">33674970</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32957400">Comparative efficacy and safety of mycophenolate mofetil and cyclophosphamide in the induction treatment of lupus nephritis: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang YP,
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Zhao XX,
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Chen RR,
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Xu ZH,
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Wen CP,
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Yu J</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
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2020 Sep 18;99(38):e22328.
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<span class="bold">PMID: </span><a href="/pubmed/32957400" target="_blank">32957400</a><a href="/pmc/articles/PMC7505394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/31985831">Paracetamol (acetaminophen) for patent ductus arteriosus in preterm or low birth weight infants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ohlsson A,
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<div class="nl"><a target="_blank" href="/pubmed/29624206">Paracetamol (acetaminophen) for patent ductus arteriosus in preterm or low birth weight infants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ohlsson A,
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Shah PS</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<div class="nl"><a target="_blank" href="/pubmed/16437478">Ibuprofen for the prevention of patent ductus arteriosus in preterm and/or low birth weight infants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shah SS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20urine%20carboxylic%20acid%20level%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 (7)</a></div></div>
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