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<meta name="keywords" content="C0020500, disease or syndrome, high urine oxalate levels, hyperoxaluria, increased level of oxalate in urine, oxaluria, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.\n\nPrimary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.\n\nThere are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=43782
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ConceptID=C0020500
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperoxaluria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43782</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.">C0020500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Oxaluria</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperoxaluria (367621000119107)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003159">HP:0003159</a></td></tr>
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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">Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.<br /><br />Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.<br /><br />There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</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><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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0020500[DISCUI]&test_type=Clinical" ref="ncbi_uid=43782">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0020500[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=43782">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=43782" ref="ncbi_uid=43782">V</a></span></span><span class="TLline">Hyperoxaluria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/1716739" ref="tree=MeSH" title="MedGen record for Abnormal urine pH">Abnormal urine pH</a></span><ul><li><span class="TLline"><a href="/medgen/488840" ref="tree=MeSH" title="MedGen record for Aciduria">Aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/66037" ref="tree=MeSH" title="MedGen record for Inborn organic aciduria">Inborn organic aciduria</a></span><ul><li><span class="matched_ds">Hyperoxaluria</span><ul><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/462228" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria type 3">Primary hyperoxaluria type 3</a></span></li><li><span class="TLline"><a href="/medgen/75658" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type I">Primary hyperoxaluria, type I</a></span></li><li><span class="TLline"><a href="/medgen/120616" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type II">Primary hyperoxaluria, type II</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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=3529&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hyperoxaluria</span> in Orphanet.</div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_75658"><div><strong>Primary hyperoxaluria, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75658</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."><span class="highlight" style="background-color:">C0268164</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75658">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120616"><div><strong>Primary hyperoxaluria, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120616</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.">C0268165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage kidney disease (ESKD). After ESKD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120616">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_79470"><div><strong>Peroxisome biogenesis disorder 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79470</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.">C0282527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/79470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462228"><div><strong>Primary hyperoxaluria type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462228</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.">C3150878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; 259900) and type II (HP2; 260000), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by Wang et al., 2015). For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462228">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830325"><div><strong>Nephrolithiasis susceptibility caused by SLC26A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830325</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.">C5779632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830325">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841152"><div><strong>Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841152</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.">C5830516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Calcium oxalate nephrolithiasis-2 with or without nephrocalcinosis (CAON2) is an autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. The age at onset is highly variable, ranging from childhood to adult. Most affected individuals have concurrent nephrocalcinosis. Renal function is generally preserved (Majmundar et al., 2023). See also CAON1 (167030).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841152">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis susceptibility caused by SLC26A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria, type II</a></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/38155376">Urolithiasis: History, epidemiology, aetiologic factors and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kachkoul R,
|
||
Touimi GB,
|
||
El Mouhri G,
|
||
El Habbani R,
|
||
Mohim M,
|
||
Lahrichi A</span><br />
|
||
<span class="medgenPMjournal">Malays J Pathol</span>
|
||
2023 Dec;45(3):333-352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38155376" target="_blank">38155376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36604599">Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groothoff JW,
|
||
Metry E,
|
||
Deesker L,
|
||
Garrelfs S,
|
||
Acquaviva C,
|
||
Almardini R,
|
||
Beck BB,
|
||
Boyer O,
|
||
Cerkauskiene R,
|
||
Ferraro PM,
|
||
Groen LA,
|
||
Gupta A,
|
||
Knebelmann B,
|
||
Mandrile G,
|
||
Moochhala SS,
|
||
Prytula A,
|
||
Putnik J,
|
||
Rumsby G,
|
||
Soliman NA,
|
||
Somani B,
|
||
Bacchetta J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Mar;19(3):194-211.
|
||
Epub 2023 Jan 5
|
||
doi: 10.1038/s41581-022-00661-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36604599" target="_blank">36604599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34508834">Pathophysiology and Management of Hyperoxaluria and Oxalate Nephropathy: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demoulin N,
|
||
Aydin S,
|
||
Gillion V,
|
||
Morelle J,
|
||
Jadoul M</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 May;79(5):717-727.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1053/j.ajkd.2021.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34508834" target="_blank">34508834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperoxaluria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (168)</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/36342385">Secondary oxalate nephropathy and kidney transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz F,
|
||
Jorgenson M,
|
||
Garg N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Organ Transplant</span>
|
||
2023 Feb 1;28(1):15-21.
|
||
Epub 2022 Nov 7
|
||
doi: 10.1097/MOT.0000000000001035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36342385" target="_blank">36342385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33405070">Lumasiran: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott LJ,
|
||
Keam SJ</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2021 Feb;81(2):277-282.
|
||
doi: 10.1007/s40265-020-01463-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33405070" target="_blank">33405070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26247153">D-glyceric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimer NW,
|
||
Schuck PF,
|
||
Streck EL,
|
||
Ferreira GC</span><br />
|
||
<span class="medgenPMjournal">An Acad Bras Cienc</span>
|
||
2015 Aug;87(2 Suppl):1409-14.
|
||
Epub 2015 Aug 4
|
||
doi: 10.1590/0001-3765201520150021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26247153" target="_blank">26247153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15191979">Kidney stones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parmar MS</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2004 Jun 12;328(7453):1420-4.
|
||
doi: 10.1136/bmj.328.7453.1420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15191979" target="_blank">15191979</a><a href="/pmc/articles/PMC421787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12474642">Childhood stones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stapleton FB</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2002 Dec;31(4):1001-15, ix.
|
||
doi: 10.1016/s0889-8529(02)00036-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12474642" target="_blank">12474642</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperoxaluria%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 (823)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35245013">Primary Hyperoxaluria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie X,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Mar 10;386(10):976.
|
||
Epub 2022 Mar 5
|
||
doi: 10.1056/NEJMicm2113369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35245013" target="_blank">35245013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34508834">Pathophysiology and Management of Hyperoxaluria and Oxalate Nephropathy: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demoulin N,
|
||
Aydin S,
|
||
Gillion V,
|
||
Morelle J,
|
||
Jadoul M</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2022 May;79(5):717-727.
|
||
Epub 2021 Sep 9
|
||
doi: 10.1053/j.ajkd.2021.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34508834" target="_blank">34508834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32896362">Oxalate Maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kourti P,
|
||
Gonzalez-Martin J,
|
||
Yeo DCM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2020 Sep;4(9):898.
|
||
doi: 10.1016/j.oret.2020.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32896362" target="_blank">32896362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26247153">D-glyceric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimer NW,
|
||
Schuck PF,
|
||
Streck EL,
|
||
Ferreira GC</span><br />
|
||
<span class="medgenPMjournal">An Acad Bras Cienc</span>
|
||
2015 Aug;87(2 Suppl):1409-14.
|
||
Epub 2015 Aug 4
|
||
doi: 10.1590/0001-3765201520150021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26247153" target="_blank">26247153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23944302">Primary hyperoxaluria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cochat P,
|
||
Rumsby G</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 15;369(7):649-58.
|
||
doi: 10.1056/NEJMra1301564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23944302" target="_blank">23944302</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperoxaluria%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 (797)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36342385">Secondary oxalate nephropathy and kidney transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz F,
|
||
Jorgenson M,
|
||
Garg N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Organ Transplant</span>
|
||
2023 Feb 1;28(1):15-21.
|
||
Epub 2022 Nov 7
|
||
doi: 10.1097/MOT.0000000000001035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36342385" target="_blank">36342385</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36329260">Oxalate homeostasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ermer T,
|
||
Nazzal L,
|
||
Tio MC,
|
||
Waikar S,
|
||
Aronson PS,
|
||
Knauf F</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/36007597">PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.</a></div>
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Groothoff J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperoxaluria%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 (396)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34154993">The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29856171">Obesity and kidney stone disease: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carbone A,
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Al Salhi Y,
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Tasca A,
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Palleschi G,
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Fuschi A,
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De Nunzio C,
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Bozzini G,
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<div class="nl"><a target="_blank" href="/pubmed/29368300">Hyperuricosuric calcium urolithiasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moe OW,
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<div class="nl"><a target="_blank" href="/pubmed/25631241">Bone impairment in primary hyperoxaluria: a review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacchetta J,
|
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Boivin G,
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Cochat P</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2016 Jan;31(1):1-6.
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Epub 2015 Jan 29
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doi: 10.1007/s00467-015-3048-z.
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<span class="bold">PMID: </span><a href="/pubmed/25631241" target="_blank">25631241</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18095746">Orlistat-associated adverse effects and drug interactions: a critical review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Filippatos TD,
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Derdemezis CS,
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Gazi IF,
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Nakou ES,
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Mikhailidis DP,
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<span class="bold">PMID: </span><a href="/pubmed/18095746" target="_blank">18095746</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperoxaluria%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 (370)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830344">Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Metry EL,
|
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van Dijk LMM,
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Peters-Sengers H,
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||
Oosterveld MJS,
|
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Groothoff JW,
|
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Ploeg RJ,
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||
Stel VS,
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Garrelfs SF</span><br />
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||
<span class="medgenPMjournal">Pediatr Nephrol</span>
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||
2021 Aug;36(8):2217-2226.
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||
Epub 2021 Apr 8
|
||
doi: 10.1007/s00467-021-05043-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830344" target="_blank">33830344</a><a href="/pmc/articles/PMC8260423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32900691">Pathophysiology and Treatment of Enteric Hyperoxaluria.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Witting C,
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||
Langman CB,
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||
Assimos D,
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||
Baum MA,
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||
Kausz A,
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||
Milliner D,
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||
Tasian G,
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Worcester E,
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Allain M,
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West M,
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Knauf F,
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Lieske JC</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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2021 Mar 8;16(3):487-495.
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||
Epub 2020 Sep 8
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||
doi: 10.2215/CJN.08000520.
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||
<span class="bold">PMID: </span><a href="/pubmed/32900691" target="_blank">32900691</a><a href="/pmc/articles/PMC8011014" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33185135">Metabolic diagnoses of recurrent stone formers: temporal, geographic and gender differences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huynh LM,
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Dianatnejad S,
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Tofani S,
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||
Carrillo Ceja R,
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Liang K,
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Tapiero S,
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Jiang P,
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Youssef RF</span><br />
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<span class="medgenPMjournal">Scand J Urol</span>
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||
2020 Dec;54(6):456-462.
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||
Epub 2020 Nov 13
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||
doi: 10.1080/21681805.2020.1840430.
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||
<span class="bold">PMID: </span><a href="/pubmed/33185135" target="_blank">33185135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30561398">Renal lithiasis and inflammatory bowel diseases, an update on pediatric population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianchi L,
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Gaiani F,
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Bizzarri B,
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||
Minelli R,
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Cortegoso Valdivia P,
|
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Leandro G,
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Di Mario F,
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De' Angelis GL,
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Ruberto C</span><br />
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<span class="medgenPMjournal">Acta Biomed</span>
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2018 Dec 17;89(9-S):76-80.
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||
doi: 10.23750/abm.v89i9-S.7908.
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<span class="bold">PMID: </span><a href="/pubmed/30561398" target="_blank">30561398</a><a href="/pmc/articles/PMC6502195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29856171">Obesity and kidney stone disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carbone A,
|
||
Al Salhi Y,
|
||
Tasca A,
|
||
Palleschi G,
|
||
Fuschi A,
|
||
De Nunzio C,
|
||
Bozzini G,
|
||
Mazzaferro S,
|
||
Pastore AL</span><br />
|
||
<span class="medgenPMjournal">Minerva Urol Nefrol</span>
|
||
2018 Aug;70(4):393-400.
|
||
Epub 2018 May 31
|
||
doi: 10.23736/S0393-2249.18.03113-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29856171" target="_blank">29856171</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperoxaluria%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0020500%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0020500%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0020500%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0020500%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0020500%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hyperoxaluria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperoxaluria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hyperoxaluria%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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