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<meta name="keywords" content="C0001126, accumulation of acid in body due to kidney problem, acidosis, renal tubular, disease or syndrome, renal tubular acidosis, rta - renal tubular acidosis, 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="Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Renal tubular acidosis (Concept Id: C0001126)
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<!--
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||
UID=90
|
||
ConceptID=C0001126
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal tubular acidosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90</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:">C0001126</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Acidosis, Renal Tubular; Renal Tubular Acidosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>RTA - Renal tubular acidosis (1776003); Renal tubular acidosis (1776003)</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:0001947">HP:0001947</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001909" target="_blank">MONDO:0001909</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0001126[DISCUI]&test_type=Clinical" ref="ncbi_uid=90">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=90" ref="ncbi_uid=90">V</a></span></span><span class="TLline">Renal tubular acidosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/7851" ref="tree=MeSH" title="MedGen record for Abnormality of acid-base homeostasis">Abnormality of acid-base homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1296" ref="tree=MeSH" title="MedGen record for Acidosis">Acidosis</a></span><ul><li><span class="matched_ds">Renal tubular acidosis</span><ul><li><span class="TLline"><a href="/medgen/347681" ref="tree=MeSH" title="MedGen record for Bicarbonate-wasting renal tubular acidosis">Bicarbonate-wasting renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/853429" ref="tree=MeSH" title="MedGen record for Distal renal tubular acidosis">Distal renal tubular acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/963849" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal renal tubular acidosis">Autosomal dominant distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/351142" ref="tree=MeSH" title="MedGen record for Autosomal recessive distal renal tubular acidosis">Autosomal recessive distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/870817" ref="tree=MeSH" title="MedGen record for Generalized distal tubular acidosis">Generalized distal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/1771439" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis, distal, 4, with hemolytic anemia">Renal tubular acidosis, distal, 4, with hemolytic anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82804" ref="tree=MeSH" title="MedGen record for Proximal renal tubular acidosis">Proximal renal tubular acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1842780" ref="tree=MeSH" title="MedGen record for Autosomal dominant proximal renal tubular acidosis">Autosomal dominant proximal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/370883" ref="tree=MeSH" title="MedGen record for Autosomal recessive proximal renal tubular acidosis">Autosomal recessive proximal renal tubular acidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/885579" ref="tree=MeSH" title="MedGen record for Renal Tubular Acidosis Associated With Deafness">Renal Tubular Acidosis Associated With Deafness</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_9618"><div><strong>Kearns-Sayre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9618</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.">C0022541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98336"><div><strong>Renal tubular acidosis with progressive nerve deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98336</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.">C0403554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98336">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316820"><div><strong>Carnitine palmitoyl transferase 1A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316820</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.">C1829703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of manifestations are usually rapid. The recognized presentations are: (1) out-of-range newborn screen (individual may be without features or with hepatic encephalopathy, hypoketotic hypoglycemia, and sudden onset of liver failure) and (2) later-onset manifestations (in the absence of newborn screening), including hepatic encephalopathy, hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and creatine kinase. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage. Acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A, has been rarely associated with CPT1A deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344611"><div><strong>Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344611</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.">C1855924</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/344611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341844"><div><strong>Alagille syndrome due to a NOTCH2 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341844</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.">C1857761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341844">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347219"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347219</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.">C1859722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012). Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_365434"><div><strong>Alagille syndrome due to a JAG1 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>365434</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.">C1956125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/365434">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462022"><div><strong>Arthrogryposis, renal dysfunction, and cholestasis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462022</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.">C3150672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462057"><div><strong>Chromosome 14q11-q22 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462057</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.">C3150707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815922"><div><strong>Mitochondrial DNA depletion syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815922</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.">C3809592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904125"><div><strong>Developmental and epileptic encephalopathy, 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904125</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.">C4225320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682397"><div><strong>Combined oxidative phosphorylation defect type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682397</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.">C5190991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682397">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794214"><div><strong>Developmental delay with or without intellectual impairment or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794214</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.">C5562004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794214">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_365434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a JAG1 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a NOTCH2 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis, renal dysfunction, and cholestasis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase 1A deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 14q11-q22 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 50</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without intellectual impairment or behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kearns-Sayre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis with progressive nerve deafness</a></div></span></div></div>
|
||
</div>
|
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|
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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>
|
||
<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/38576261">Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mancuso M,
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Papadopoulou MT,
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Ng YS,
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Ardissone A,
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Bellusci M,
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Bertini E,
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Di Vito L,
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Evangelista T,
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Fons C,
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Hikmat O,
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Horvath R,
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Klopstock T,
|
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Kornblum C,
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Lamperti C,
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Licchetta L,
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Molnar MJ,
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Varhaug KN,
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O'Callaghan M,
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Pressler RM,
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Schiff M,
|
||
Servidei S,
|
||
Szabo N,
|
||
Gorman GS,
|
||
Cross JH,
|
||
Rahman S</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Jul;31(7):e16275.
|
||
Epub 2024 Apr 4
|
||
doi: 10.1111/ene.16275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38576261" target="_blank">38576261</a><a href="/pmc/articles/PMC11235721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33770395">Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giglio S,
|
||
Montini G,
|
||
Trepiccione F,
|
||
Gambaro G,
|
||
Emma F</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2021 Dec;34(6):2073-2083.
|
||
Epub 2021 Mar 26
|
||
doi: 10.1007/s40620-021-01032-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33770395" target="_blank">33770395</a><a href="/pmc/articles/PMC8610947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
|
||
Kelepouris E,
|
||
Clegg DJ</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2021 Feb;38(2):949-968.
|
||
Epub 2020 Dec 26
|
||
doi: 10.1007/s12325-020-01587-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22renal%20tubular%20acidosis%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 (67)</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/37016093">The pathophysiology of distal renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wagner CA,
|
||
Unwin R,
|
||
Lopez-Garcia SC,
|
||
Kleta R,
|
||
Bockenhauer D,
|
||
Walsh S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Jun;19(6):384-400.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1038/s41581-023-00699-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37016093" target="_blank">37016093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32591997">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagga A,
|
||
Sinha A</span><br />
|
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<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Sep;87(9):733-744.
|
||
Epub 2020 Jun 26
|
||
doi: 10.1007/s12098-020-03318-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32591997" target="_blank">32591997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
|
||
Bitzan M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
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2019 Feb;66(1):135-157.
|
||
doi: 10.1016/j.pcl.2018.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25296721">Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Halbritter J,
|
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Baum M,
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Hynes AM,
|
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Rice SJ,
|
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Thwaites DT,
|
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Gucev ZS,
|
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Fisher B,
|
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Spaneas L,
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Porath JD,
|
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Braun DA,
|
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Wassner AJ,
|
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Nelson CP,
|
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Tasic V,
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Sayer JA,
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Hildebrandt F</span><br />
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<span class="medgenPMjournal">J Am Soc Nephrol</span>
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2015 Mar;26(3):543-51.
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Epub 2014 Oct 8
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<span class="bold">PMID: </span><a href="/pubmed/25296721" target="_blank">25296721</a><a href="/pmc/articles/PMC4341487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/17297212">Approach to hypokalemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lim S</span><br />
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<span class="medgenPMjournal">Acta Med Indones</span>
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2007 Jan-Mar;39(1):56-64.
|
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<span class="bold">PMID: </span><a href="/pubmed/17297212" target="_blank">17297212</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%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 (509)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38296789">Renal Tubular Acidosis in the Neonate.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee BR</span><br />
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<span class="medgenPMjournal">Neoreviews</span>
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2024 Feb 1;25(2):e99-e106.
|
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doi: 10.1542/neo.25-2-e99.
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<span class="bold">PMID: </span><a href="/pubmed/38296789" target="_blank">38296789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
|
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Kelepouris E,
|
||
Clegg DJ</span><br />
|
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<span class="medgenPMjournal">Adv Ther</span>
|
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2021 Feb;38(2):949-968.
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Epub 2020 Dec 26
|
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doi: 10.1007/s12325-020-01587-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32591997">Renal Tubular Acidosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bagga A,
|
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Sinha A</span><br />
|
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<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Sep;87(9):733-744.
|
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Epub 2020 Jun 26
|
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doi: 10.1007/s12098-020-03318-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32591997" target="_blank">32591997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
|
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Bitzan M</span><br />
|
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
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2019 Feb;66(1):135-157.
|
||
doi: 10.1016/j.pcl.2018.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24345454">Renal tubular acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gil-Peña H,
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Mejía N,
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Santos F</span><br />
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<span class="medgenPMjournal">J Pediatr</span>
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2014 Apr;164(4):691-698.e1.
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doi: 10.1016/j.jpeds.2013.10.085.
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<span class="bold">PMID: </span><a href="/pubmed/24345454" target="_blank">24345454</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%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 (1057)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37016093">The pathophysiology of distal renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wagner CA,
|
||
Unwin R,
|
||
Lopez-Garcia SC,
|
||
Kleta R,
|
||
Bockenhauer D,
|
||
Walsh S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2023 Jun;19(6):384-400.
|
||
Epub 2023 Apr 4
|
||
doi: 10.1038/s41581-023-00699-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37016093" target="_blank">37016093</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30048437">Topiramate induced renal tubular acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Florkowski CM,
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Soule SG</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/30048437" target="_blank">30048437</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17936961">Metabolic acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lim S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/17936961" target="_blank">17936961</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4911985">Artificial sweeteners--possible photosensitizers.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4894504">Renal tubular acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Soriano J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (728)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31800080">Hyperkalemia: pathophysiology, risk factors and consequences.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hunter RW,
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Bailey MA</span><br />
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<span class="medgenPMjournal">Nephrol Dial Transplant</span>
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<span class="bold">PMID: </span><a href="/pubmed/31800080" target="_blank">31800080</a><a href="/pmc/articles/PMC6892421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
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Bitzan M</span><br />
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
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2019 Feb;66(1):135-157.
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doi: 10.1016/j.pcl.2018.08.011.
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<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28092281">Renal tubular acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Santos F,
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Gil-Peña H,
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<span class="bold">PMID: </span><a href="/pubmed/28092281" target="_blank">28092281</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9286148">Nephropathic cystinosis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/7715963">Renal tubular acidosis.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%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 (316)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35357683">Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boyer O,
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Manso-Silván MA,
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Joukoff S,
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Berthaud R,
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Guittet C</span><br />
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<span class="medgenPMjournal">J Nephrol</span>
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<span class="bold">PMID: </span><a href="/pubmed/35357683" target="_blank">35357683</a><a href="/pmc/articles/PMC9584875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35063968">Electrolyte and Acid-Base Disorders Associated with Cancer Immunotherapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uppal NN,
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Workeneh BT,
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Rondon-Berrios H,
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Jhaveri KD</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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doi: 10.2215/CJN.14671121.
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<span class="bold">PMID: </span><a href="/pubmed/35063968" target="_blank">35063968</a><a href="/pmc/articles/PMC9269647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33367987">Renal Tubular Acidosis and Management Strategies: A Narrative Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
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Kelepouris E,
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Clegg DJ</span><br />
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<span class="medgenPMjournal">Adv Ther</span>
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2021 Feb;38(2):949-968.
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Epub 2020 Dec 26
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doi: 10.1007/s12325-020-01587-5.
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<span class="bold">PMID: </span><a href="/pubmed/33367987" target="_blank">33367987</a><a href="/pmc/articles/PMC7889554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9143096">Teratogen update: toluene.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/9143096" target="_blank">9143096</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23014">Hydrogen ion metabolism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Worthley LI</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%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 (332)</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/40000975">Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shafiei M,
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Hosseini S,
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Ghadimi S,
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Mirzaee M,
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Keikhah M,
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Ardalan N,
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Mohkam M,
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Tamiji M,
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Jamee M</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/37481699">Severe Hypokalemia Complicated by Acute Myopathy: Initial Manifestation of Primary Sjögren's Syndrome-Associated Renal Tubular Acidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gao YL,
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Milebe Nkoua GD,
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Chai YF</span><br />
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<span class="medgenPMjournal">Am J Case Rep</span>
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<div class="nl"><a target="_blank" href="/pubmed/34492747">Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dodamani MH,
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Sehemby M,
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Memon SS,
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Sarathi V,
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Lila AR,
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Chapla A,
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Bhandare VV,
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Patil VA,
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Shah NS,
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Thomas N,
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Kunwar A,
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Bandgar TR</span><br />
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
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<span class="bold">PMID: </span><a href="/pubmed/34492747" target="_blank">34492747</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29134448">Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Clericetti CM,
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Milani GP,
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Lava SAG,
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Bianchetti MG,
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Simonetti GD,
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Giannini O</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2018 Mar;33(3):485-491.
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Epub 2017 Nov 13
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<span class="bold">PMID: </span><a href="/pubmed/29134448" target="_blank">29134448</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27456839">Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gambaro G,
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Croppi E,
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Coe F,
|
||
Lingeman J,
|
||
Moe O,
|
||
Worcester E,
|
||
Buchholz N,
|
||
Bushinsky D,
|
||
Curhan GC,
|
||
Ferraro PM,
|
||
Fuster D,
|
||
Goldfarb DS,
|
||
Heilberg IP,
|
||
Hess B,
|
||
Lieske J,
|
||
Marangella M,
|
||
Milliner D,
|
||
Preminger GM,
|
||
Reis Santos JM,
|
||
Sakhaee K,
|
||
Sarica K,
|
||
Siener R,
|
||
Strazzullo P,
|
||
Williams JC;
|
||
Consensus Conference Group</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2016 Dec;29(6):715-734.
|
||
Epub 2016 Jul 25
|
||
doi: 10.1007/s40620-016-0329-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27456839" target="_blank">27456839</a><a href="/pmc/articles/PMC5080344" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20tubular%20acidosis%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 (8)</a></div></div>
|
||
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0001126%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0001126%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
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<li><a href="/gtr/tests?term=C0001126%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0001126%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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