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<meta name="keywords" content="C3537440, ctns, cystinosin, defect of, cystinosis, atypical nephropathic, cystinosis, infantile nephropathic, disease or syndrome, infantile nephropathic cystinosis, lysosomal cystine transport protein, defect of, nephropathic infantile cystinosis, 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="A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=760976
|
||
ConceptID=C3537440
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Infantile nephropathic cystinosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760976</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.">C3537440</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>Cystinosis, Infantile Nephropathic</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Infantile nephropathic cystinosis (62332007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018467" target="_blank">MONDO:0018467</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/219800" target="_blank">219800</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411629">ORPHA411629</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4316899[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384792">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1384792" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=1384792">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384792" ref="ncbi_uid=1384792">V</a></span></span><span class="TLline"><a href="/medgen/1384792" ref="tree=GTR&ncbi_uid=1384792&link_uid=1384792" title="View MedGen record for 'Cystinosis'">Cystinosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931187[DISCUI]&test_type=Clinical" ref="ncbi_uid=419735">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419735" target="_blank" href="/omim/219800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419735">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419735" ref="ncbi_uid=419735">V</a></span></span><span class="TLline"><a href="/medgen/419735" ref="tree=GTR&ncbi_uid=419735&link_uid=419735" title="View MedGen record for 'Nephropathic cystinosis'">Nephropathic cystinosis</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3537440[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=760976">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=760976" target="_blank" href="/omim/219800">O</a></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=760976" ref="ncbi_uid=760976">V</a></span></span><span class="TLline">Infantile nephropathic cystinosis</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268626[DISCUI]&test_type=Clinical" ref="ncbi_uid=75701">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75701" target="_blank" href="/omim/219900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=75701">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75701" ref="ncbi_uid=75701">V</a></span></span><span class="TLline"><a href="/medgen/75701" ref="tree=GTR&ncbi_uid=75701&link_uid=75701" title="View MedGen record for 'Juvenile nephropathic cystinosis'">Juvenile nephropathic cystinosis</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931013[DISCUI]&test_type=Clinical" ref="ncbi_uid=419313">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419313" target="_blank" href="/omim/219750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1400/" ref="ncbi_uid=419313">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419313" ref="ncbi_uid=419313">V</a></span></span><span class="TLline"><a href="/medgen/419313" ref="tree=GTR&ncbi_uid=419313&link_uid=419313" title="View MedGen record for 'Ocular cystinosis'">Ocular cystinosis</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span><ul><li><span class="matched_ds">Infantile nephropathic cystinosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36117148">Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veys K,
|
||
Zadora W,
|
||
Hohenfellner K,
|
||
Bockenhauer D,
|
||
Janssen MCH,
|
||
Niaudet P,
|
||
Servais A,
|
||
Topaloglu R,
|
||
Besouw M,
|
||
Novo R,
|
||
Haffner D,
|
||
Kanzelmeyer N,
|
||
Pape L,
|
||
Wühl E,
|
||
Harms E,
|
||
Awan A,
|
||
Sikora P,
|
||
Ariceta G,
|
||
van den Heuvel B,
|
||
Levtchenko E</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jan;46(1):43-54.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1002/jimd.12562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36117148" target="_blank">36117148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35406673">Newborn Screening: Review of its Impact for Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohenfellner K,
|
||
Elenberg E,
|
||
Ariceta G,
|
||
Nesterova G,
|
||
Soliman NA,
|
||
Topaloglu R</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Mar 25;11(7)
|
||
doi: 10.3390/cells11071109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35406673" target="_blank">35406673</a><a href="/pmc/articles/PMC8997957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29260317">Effects of long-term cysteamine treatment in patients with cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ariceta G,
|
||
Giordano V,
|
||
Santos F</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2019 Apr;34(4):571-578.
|
||
Epub 2017 Dec 19
|
||
doi: 10.1007/s00467-017-3856-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29260317" target="_blank">29260317</a><a href="/pmc/articles/PMC6394685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22infantile%20nephropathic%20cystinosis%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 (7)</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/38850407">Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brügelmann M,
|
||
Müller S,
|
||
Bohlen AV,
|
||
Hohenfellner K,
|
||
Büscher A,
|
||
Kemper MJ,
|
||
Fröde K,
|
||
Kanzelmeyer N,
|
||
Oh J,
|
||
Billing H,
|
||
Gellermann J,
|
||
Müller D,
|
||
Weber LT,
|
||
Acham-Roschitz B,
|
||
Arbeiter K,
|
||
Tönshoff B,
|
||
Hagenberg M,
|
||
Žebec MS,
|
||
Haffner D,
|
||
Zivicnjak M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Oct;39(10):3067-3077.
|
||
Epub 2024 Jun 8
|
||
doi: 10.1007/s00467-024-06421-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38850407" target="_blank">38850407</a><a href="/pmc/articles/PMC11349855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37415042">Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller S,
|
||
Kluck R,
|
||
Jagodzinski C,
|
||
Brügelmann M,
|
||
Hohenfellner K,
|
||
Büscher A,
|
||
Kemper MJ,
|
||
Fröde K,
|
||
Oh J,
|
||
Billing H,
|
||
Thumfart J,
|
||
Weber LT,
|
||
Acham-Roschitz B,
|
||
Arbeiter K,
|
||
Tönshoff B,
|
||
Hagenberg M,
|
||
Pavičić L,
|
||
Haffner D,
|
||
Zivicnjak M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2023 Dec;38(12):3989-3999.
|
||
Epub 2023 Jul 7
|
||
doi: 10.1007/s00467-023-06058-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37415042" target="_blank">37415042</a><a href="/pmc/articles/PMC10584709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35445972">Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Younsi M,
|
||
Trabelsi M,
|
||
Ben Youssef S,
|
||
Ouertani I,
|
||
Hammi Y,
|
||
Achour A,
|
||
Maazoul F,
|
||
Kharrat M,
|
||
Gargah T,
|
||
M'rad R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2023 Jan;38(1):119-129.
|
||
Epub 2022 Apr 20
|
||
doi: 10.1007/s00467-022-05525-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35445972" target="_blank">35445972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33822926">Testicular function in males with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Haffner D,
|
||
Cremers JF,
|
||
Huss S,
|
||
Wistuba J,
|
||
Weitzel D,
|
||
Kliesch S,
|
||
Hohenfellner K</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2021 Apr 20;36(5):1191-1204.
|
||
doi: 10.1093/humrep/deab030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822926" target="_blank">33822926</a><a href="/pmc/articles/PMC8058591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18075494">Infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stokes MB,
|
||
Jernigan S,
|
||
D'Agati VD</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2008 Mar;73(6):782-6.
|
||
Epub 2007 Dec 12
|
||
doi: 10.1038/sj.ki.5002730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18075494" target="_blank">18075494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20nephropathic%20cystinosis%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36977427">Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keidel LF,
|
||
Schworm B,
|
||
Hohenfellner K,
|
||
Kruse F,
|
||
Priglinger S,
|
||
Luft N,
|
||
Priglinger C</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2023 Mar;240(3):266-275.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1055/s-0037-1599653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36977427" target="_blank">36977427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32659846">The Importance of the Early Diagnosis of Infantile Nephropathic Cystinosis: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polat E,
|
||
Torun EG,
|
||
Akkaya B</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2021 Mar;233(2):79-82.
|
||
Epub 2020 Jul 13
|
||
doi: 10.1055/a-1202-1788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32659846" target="_blank">32659846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28343471">Ocular Complications of Infantile Nephropathic Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bishop R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Apr;183S:S19-S21.
|
||
doi: 10.1016/j.jpeds.2016.12.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28343471" target="_blank">28343471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21980659">Infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peco-Antić A,
|
||
Kostić M,
|
||
Bogdanović R,
|
||
Spasojević B,
|
||
Djordjević M,
|
||
Paripović D,
|
||
Kovacević D</span><br />
|
||
<span class="medgenPMjournal">Srp Arh Celok Lek</span>
|
||
2011 Jul-Aug;139(7-8):486-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21980659" target="_blank">21980659</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18075494">Infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stokes MB,
|
||
Jernigan S,
|
||
D'Agati VD</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2008 Mar;73(6):782-6.
|
||
Epub 2007 Dec 12
|
||
doi: 10.1038/sj.ki.5002730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18075494" target="_blank">18075494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20nephropathic%20cystinosis%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 (35)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38850407">Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brügelmann M,
|
||
Müller S,
|
||
Bohlen AV,
|
||
Hohenfellner K,
|
||
Büscher A,
|
||
Kemper MJ,
|
||
Fröde K,
|
||
Kanzelmeyer N,
|
||
Oh J,
|
||
Billing H,
|
||
Gellermann J,
|
||
Müller D,
|
||
Weber LT,
|
||
Acham-Roschitz B,
|
||
Arbeiter K,
|
||
Tönshoff B,
|
||
Hagenberg M,
|
||
Žebec MS,
|
||
Haffner D,
|
||
Zivicnjak M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Oct;39(10):3067-3077.
|
||
Epub 2024 Jun 8
|
||
doi: 10.1007/s00467-024-06421-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38850407" target="_blank">38850407</a><a href="/pmc/articles/PMC11349855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36977427">Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keidel LF,
|
||
Schworm B,
|
||
Hohenfellner K,
|
||
Kruse F,
|
||
Priglinger S,
|
||
Luft N,
|
||
Priglinger C</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2023 Mar;240(3):266-275.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1055/s-0037-1599653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36977427" target="_blank">36977427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35406673">Newborn Screening: Review of its Impact for Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohenfellner K,
|
||
Elenberg E,
|
||
Ariceta G,
|
||
Nesterova G,
|
||
Soliman NA,
|
||
Topaloglu R</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Mar 25;11(7)
|
||
doi: 10.3390/cells11071109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35406673" target="_blank">35406673</a><a href="/pmc/articles/PMC8997957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28343471">Ocular Complications of Infantile Nephropathic Cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bishop R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Apr;183S:S19-S21.
|
||
doi: 10.1016/j.jpeds.2016.12.055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28343471" target="_blank">28343471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24132690">Urgent ophthalmic examination for renal tubular acidosis. Infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeung HH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2012 Nov-Dec;49(6):329, 340.
|
||
doi: 10.3928/01913913-20120924-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24132690" target="_blank">24132690</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20nephropathic%20cystinosis%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39210624">Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung WW,
|
||
Zhou P,
|
||
Zheng R,
|
||
Gertler A,
|
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Oliveira EA,
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Mak RH</span><br />
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<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
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2024 Dec;15(6):2447-2459.
|
||
Epub 2024 Aug 29
|
||
doi: 10.1002/jcsm.13579.
|
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<span class="bold">PMID: </span><a href="/pubmed/39210624" target="_blank">39210624</a><a href="/pmc/articles/PMC11634524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36977427">Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keidel LF,
|
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Schworm B,
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Hohenfellner K,
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Kruse F,
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<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
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2023 Mar;240(3):266-275.
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Epub 2023 Mar 28
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<span class="bold">PMID: </span><a href="/pubmed/36977427" target="_blank">36977427</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35406673">Newborn Screening: Review of its Impact for Cystinosis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hohenfellner K,
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Elenberg E,
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Ariceta G,
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Nesterova G,
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Soliman NA,
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Topaloglu R</span><br />
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<span class="medgenPMjournal">Cells</span>
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2022 Mar 25;11(7)
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<span class="bold">PMID: </span><a href="/pubmed/35406673" target="_blank">35406673</a><a href="/pmc/articles/PMC8997957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/21980659">Infantile nephropathic cystinosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peco-Antić A,
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Kostić M,
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Bogdanović R,
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Spasojević B,
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Djordjević M,
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2011 Jul-Aug;139(7-8):486-90.
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<span class="bold">PMID: </span><a href="/pubmed/21980659" target="_blank">21980659</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/18075494">Infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stokes MB,
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Jernigan S,
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D'Agati VD</span><br />
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2008 Mar;73(6):782-6.
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<span class="bold">PMID: </span><a href="/pubmed/18075494" target="_blank">18075494</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20nephropathic%20cystinosis%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39205450">Ocular Involvement in Patients with Infantile Nephropathic Cystinosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Üzüm S,
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Bozkurt Oflaz A,
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Guluzade S,
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Tınkır Kayıtmazbatır E,
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Bozkurt B</span><br />
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2024 Aug 28;54(4):235-239.
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doi: 10.4274/tjo.galenos.2024.89957.
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<span class="bold">PMID: </span><a href="/pubmed/39205450" target="_blank">39205450</a><a href="/pmc/articles/PMC11590711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38850407">Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brügelmann M,
|
||
Müller S,
|
||
Bohlen AV,
|
||
Hohenfellner K,
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||
Büscher A,
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Kemper MJ,
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||
Fröde K,
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||
Kanzelmeyer N,
|
||
Oh J,
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||
Billing H,
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||
Gellermann J,
|
||
Müller D,
|
||
Weber LT,
|
||
Acham-Roschitz B,
|
||
Arbeiter K,
|
||
Tönshoff B,
|
||
Hagenberg M,
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||
Žebec MS,
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||
Haffner D,
|
||
Zivicnjak M</span><br />
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||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Oct;39(10):3067-3077.
|
||
Epub 2024 Jun 8
|
||
doi: 10.1007/s00467-024-06421-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38850407" target="_blank">38850407</a><a href="/pmc/articles/PMC11349855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37415042">Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller S,
|
||
Kluck R,
|
||
Jagodzinski C,
|
||
Brügelmann M,
|
||
Hohenfellner K,
|
||
Büscher A,
|
||
Kemper MJ,
|
||
Fröde K,
|
||
Oh J,
|
||
Billing H,
|
||
Thumfart J,
|
||
Weber LT,
|
||
Acham-Roschitz B,
|
||
Arbeiter K,
|
||
Tönshoff B,
|
||
Hagenberg M,
|
||
Pavičić L,
|
||
Haffner D,
|
||
Zivicnjak M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2023 Dec;38(12):3989-3999.
|
||
Epub 2023 Jul 7
|
||
doi: 10.1007/s00467-023-06058-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37415042" target="_blank">37415042</a><a href="/pmc/articles/PMC10584709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35011732">Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Leifheit-Nestler M,
|
||
Alioli C,
|
||
Bacchetta J</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Jan 5;11(1)
|
||
doi: 10.3390/cells11010170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35011732" target="_blank">35011732</a><a href="/pmc/articles/PMC8749987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33822926">Testicular function in males with infantile nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohayem J,
|
||
Haffner D,
|
||
Cremers JF,
|
||
Huss S,
|
||
Wistuba J,
|
||
Weitzel D,
|
||
Kliesch S,
|
||
Hohenfellner K</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2021 Apr 20;36(5):1191-1204.
|
||
doi: 10.1093/humrep/deab030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822926" target="_blank">33822926</a><a href="/pmc/articles/PMC8058591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20nephropathic%20cystinosis%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 (25)</a></div></div>
|
||
</div>
|
||
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3537440%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3537440%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3537440%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=411629" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Infantile%20nephropathic%20cystinosis" 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=(%22infantile%20nephropathic%20cystinosis%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(%22Infantile%20nephropathic%20cystinosis%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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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cystinosis_nephropathic" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Infantile%20nephropathic%20cystinosis" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9755/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Infantile%20nephropathic%20cystinosis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Infantile%20nephropathic%20cystinosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=760976" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3537440[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3537440[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=760976" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=760976" ref="log$=recordlinks">OMIM</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=760976" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=760976" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=760976" ref="log$=recordlinks">PubMed (OMIM)</a>
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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