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<!--
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UID=1826131
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ConceptID=C5681747
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital intestinal transport defect</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826131</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.">C5681747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
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<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=104003">ORPHA104003</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_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Congenital intestinal transport defect</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Congenital intestinal transport defect</span><ul><li><span class="TLline"><a href="/medgen/78647" ref="tree=MeSH" title="MedGen record for Congenital glucose-galactose malabsorption">Congenital glucose-galactose malabsorption</a></span></li><li><span class="TLline"><a href="/medgen/78631" ref="tree=MeSH" title="MedGen record for Congenital secretory diarrhea, chloride type">Congenital secretory diarrhea, chloride type</a></span></li><li><span class="TLline"><a href="/medgen/78632" ref="tree=MeSH" title="MedGen record for Congenital sodium diarrhea">Congenital sodium diarrhea</a></span></li><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li><li><span class="TLline"><a href="/medgen/1805017" ref="tree=MeSH" title="MedGen record for Syndromic congenital sodium diarrhea">Syndromic congenital sodium diarrhea</a></span></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/38734141">Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avitzur Y,
|
||
Jimenez L,
|
||
Martincevic I,
|
||
Acra S,
|
||
Courtney-Martin G,
|
||
Gray M,
|
||
Hope K,
|
||
Muise A,
|
||
Prieto Jimenez PM,
|
||
Taylor N,
|
||
Thiagarajah JR,
|
||
Martín MG;
|
||
PediCODE Consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Nutr</span>
|
||
2024 Jul;120(1):17-33.
|
||
Epub 2024 May 9
|
||
doi: 10.1016/j.ajcnut.2024.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38734141" target="_blank">38734141</a><a href="/pmc/articles/PMC11251218" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20216094">Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berni Canani R,
|
||
Terrin G,
|
||
Cardillo G,
|
||
Tomaiuolo R,
|
||
Castaldo G</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2010 Apr;50(4):360-6.
|
||
doi: 10.1097/MPG.0b013e3181d135ef.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20216094" target="_blank">20216094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/156613">Immediate management structural malformations in the neonatal period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nadler HL,
|
||
Hazinski T</span><br />
|
||
<span class="medgenPMjournal">Compr Ther</span>
|
||
1979 Jun;5(6):7-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/156613" target="_blank">156613</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20intestinal%20transport%20defect)%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 (4)</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/38508949">ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simmonds NJ,
|
||
Southern KW,
|
||
De Wachter E,
|
||
De Boeck K,
|
||
Bodewes F,
|
||
Mainz JG,
|
||
Middleton PG,
|
||
Schwarz C,
|
||
Vloeberghs V,
|
||
Wilschanski M,
|
||
Bourrat E,
|
||
Chalmers JD,
|
||
Ooi CY,
|
||
Debray D,
|
||
Downey DG,
|
||
Eschenhagen P,
|
||
Girodon E,
|
||
Hickman G,
|
||
Koitschev A,
|
||
Nazareth D,
|
||
Nick JA,
|
||
Peckham D,
|
||
VanDevanter D,
|
||
Raynal C,
|
||
Scheers I,
|
||
Waller MD,
|
||
Sermet-Gaudelus I,
|
||
Castellani C;
|
||
ECFS Diagnostic Network Working Group</span><br />
|
||
<span class="medgenPMjournal">J Cyst Fibros</span>
|
||
2024 Jul;23(4):590-602.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1016/j.jcf.2024.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38508949" target="_blank">38508949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32439113">Congenital Diarrheal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younis M,
|
||
Rastogi R,
|
||
Chugh A,
|
||
Rastogi S,
|
||
Aly H</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2020 Jun;47(2):301-321.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1016/j.clp.2020.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32439113" target="_blank">32439113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28917956">Bowel Dilation Diagnosed Prenatally.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chouikh T,
|
||
Mottet N,
|
||
Lenoir M,
|
||
Chaussy Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Nov;190:284-284.e1.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1016/j.jpeds.2017.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28917956" target="_blank">28917956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22605972">Congenital diarrheal disorders: an updated diagnostic approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terrin G,
|
||
Tomaiuolo R,
|
||
Passariello A,
|
||
Elce A,
|
||
Amato F,
|
||
Di Costanzo M,
|
||
Castaldo G,
|
||
Canani RB</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2012;13(4):4168-4185.
|
||
Epub 2012 Mar 29
|
||
doi: 10.3390/ijms13044168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22605972" target="_blank">22605972</a><a href="/pmc/articles/PMC3344208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12409504">Congenital disorders of glycosylation: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grunewald S,
|
||
Matthijs G,
|
||
Jaeken J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2002 Nov;52(5):618-24.
|
||
doi: 10.1203/00006450-200211000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12409504" target="_blank">12409504</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (38)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38508949">ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simmonds NJ,
|
||
Southern KW,
|
||
De Wachter E,
|
||
De Boeck K,
|
||
Bodewes F,
|
||
Mainz JG,
|
||
Middleton PG,
|
||
Schwarz C,
|
||
Vloeberghs V,
|
||
Wilschanski M,
|
||
Bourrat E,
|
||
Chalmers JD,
|
||
Ooi CY,
|
||
Debray D,
|
||
Downey DG,
|
||
Eschenhagen P,
|
||
Girodon E,
|
||
Hickman G,
|
||
Koitschev A,
|
||
Nazareth D,
|
||
Nick JA,
|
||
Peckham D,
|
||
VanDevanter D,
|
||
Raynal C,
|
||
Scheers I,
|
||
Waller MD,
|
||
Sermet-Gaudelus I,
|
||
Castellani C;
|
||
ECFS Diagnostic Network Working Group</span><br />
|
||
<span class="medgenPMjournal">J Cyst Fibros</span>
|
||
2024 Jul;23(4):590-602.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1016/j.jcf.2024.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38508949" target="_blank">38508949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32439113">Congenital Diarrheal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younis M,
|
||
Rastogi R,
|
||
Chugh A,
|
||
Rastogi S,
|
||
Aly H</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2020 Jun;47(2):301-321.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1016/j.clp.2020.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32439113" target="_blank">32439113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29654747">Advances in Evaluation of Chronic Diarrhea in Infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiagarajah JR,
|
||
Kamin DS,
|
||
Acra S,
|
||
Goldsmith JD,
|
||
Roland JT,
|
||
Lencer WI,
|
||
Muise AM,
|
||
Goldenring JR,
|
||
Avitzur Y,
|
||
Martín MG;
|
||
PediCODE Consortium</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2018 Jun;154(8):2045-2059.e6.
|
||
Epub 2018 Apr 12
|
||
doi: 10.1053/j.gastro.2018.03.067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29654747" target="_blank">29654747</a><a href="/pmc/articles/PMC6044208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28917956">Bowel Dilation Diagnosed Prenatally.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chouikh T,
|
||
Mottet N,
|
||
Lenoir M,
|
||
Chaussy Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Nov;190:284-284.e1.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1016/j.jpeds.2017.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28917956" target="_blank">28917956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12409504">Congenital disorders of glycosylation: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grunewald S,
|
||
Matthijs G,
|
||
Jaeken J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2002 Nov;52(5):618-24.
|
||
doi: 10.1203/00006450-200211000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12409504" target="_blank">12409504</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26813946">Against all odds: blended phenotypes of three single-gene defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Salfelder A,
|
||
Schwab KO,
|
||
Grünert SC,
|
||
Velten T,
|
||
Lütjohann D,
|
||
Villavicencio-Lorini P,
|
||
Matysiak-Scholze U,
|
||
Zabel B,
|
||
Köttgen A,
|
||
Lausch E</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2016 Aug;24(9):1274-9.
|
||
Epub 2016 Jan 27
|
||
doi: 10.1038/ejhg.2015.285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26813946" target="_blank">26813946</a><a href="/pmc/articles/PMC4989199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24988822">Junctional ectopic tachycardia after congenital heart surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cools E,
|
||
Missant C</span><br />
|
||
<span class="medgenPMjournal">Acta Anaesthesiol Belg</span>
|
||
2014;65(1):1-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24988822" target="_blank">24988822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24166850">Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Cao L,
|
||
Su Y,
|
||
Wang G,
|
||
Wang R,
|
||
Yu Z,
|
||
Bai X,
|
||
Ruan C</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2014 Mar;89(3):320-4.
|
||
doi: 10.1002/ajh.23619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24166850" target="_blank">24166850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12003010">Lauriston S. Taylor Lecture: Assuring the safety of medical diagnostic ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyborg WL</span><br />
|
||
<span class="medgenPMjournal">Health Phys</span>
|
||
2002 May;82(5):578-87.
|
||
doi: 10.1097/00004032-200205000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12003010" target="_blank">12003010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3987728">Congenital folate malabsorption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbeel L,
|
||
Van den Berghe G,
|
||
Jaeken J,
|
||
Van Tornout J,
|
||
Eeckels R</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1985 Mar;143(4):284-90.
|
||
doi: 10.1007/BF00442302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3987728" target="_blank">3987728</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35576965">Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoşnut FÖ,
|
||
Sahin GE,
|
||
Ozyazıcı A,
|
||
Olgac A,
|
||
Aksu AU</span><br />
|
||
<span class="medgenPMjournal">Z Geburtshilfe Neonatol</span>
|
||
2022 Oct;226(5):311-318.
|
||
Epub 2022 May 16
|
||
doi: 10.1055/a-1774-5005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35576965" target="_blank">35576965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35575086">UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duclaux-Loras R,
|
||
Lebreton C,
|
||
Berthelet J,
|
||
Charbit-Henrion F,
|
||
Nicolle O,
|
||
Revenu des Courtils C,
|
||
Waich S,
|
||
Valovka T,
|
||
Khiat A,
|
||
Rabant M,
|
||
Racine C,
|
||
Guerrera IC,
|
||
Baptista J,
|
||
Mahe MM,
|
||
Hess MW,
|
||
Durel B,
|
||
Lefort N,
|
||
Banal C,
|
||
Parisot M,
|
||
Talbotec C,
|
||
Lacaille F,
|
||
Ecochard-Dugelay E,
|
||
Demir AM,
|
||
Vogel GF,
|
||
Faivre L,
|
||
Rodrigues A,
|
||
Fowler D,
|
||
Janecke AR,
|
||
Müller T,
|
||
Huber LA,
|
||
Rodrigues-Lima F,
|
||
Ruemmele FM,
|
||
Uhlig HH,
|
||
Del Bene F,
|
||
Michaux G,
|
||
Cerf-Bensussan N,
|
||
Parlato M</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2022 May 16;132(10)
|
||
doi: 10.1172/JCI154997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35575086" target="_blank">35575086</a><a href="/pmc/articles/PMC9106349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28917956">Bowel Dilation Diagnosed Prenatally.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chouikh T,
|
||
Mottet N,
|
||
Lenoir M,
|
||
Chaussy Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2017 Nov;190:284-284.e1.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1016/j.jpeds.2017.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28917956" target="_blank">28917956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21494839">Recent progress in congenital diarrheal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canani RB,
|
||
Terrin G</span><br />
|
||
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
|
||
2011 Jun;13(3):257-64.
|
||
doi: 10.1007/s11894-011-0188-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21494839" target="_blank">21494839</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3279785">Congenital atresia and stenosis of the duodenum: the impact of a prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miro J,
|
||
Bard H</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1988 Mar;158(3 Pt 1):555-9.
|
||
doi: 10.1016/0002-9378(88)90024-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3279785" target="_blank">3279785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35575086">UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duclaux-Loras R,
|
||
Lebreton C,
|
||
Berthelet J,
|
||
Charbit-Henrion F,
|
||
Nicolle O,
|
||
Revenu des Courtils C,
|
||
Waich S,
|
||
Valovka T,
|
||
Khiat A,
|
||
Rabant M,
|
||
Racine C,
|
||
Guerrera IC,
|
||
Baptista J,
|
||
Mahe MM,
|
||
Hess MW,
|
||
Durel B,
|
||
Lefort N,
|
||
Banal C,
|
||
Parisot M,
|
||
Talbotec C,
|
||
Lacaille F,
|
||
Ecochard-Dugelay E,
|
||
Demir AM,
|
||
Vogel GF,
|
||
Faivre L,
|
||
Rodrigues A,
|
||
Fowler D,
|
||
Janecke AR,
|
||
Müller T,
|
||
Huber LA,
|
||
Rodrigues-Lima F,
|
||
Ruemmele FM,
|
||
Uhlig HH,
|
||
Del Bene F,
|
||
Michaux G,
|
||
Cerf-Bensussan N,
|
||
Parlato M</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2022 May 16;132(10)
|
||
doi: 10.1172/JCI154997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35575086" target="_blank">35575086</a><a href="/pmc/articles/PMC9106349" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34510807">Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brusq C,
|
||
Mieusset R,
|
||
Hamdi SM</span><br />
|
||
<span class="medgenPMjournal">Andrology</span>
|
||
2022 Feb;10(2):262-269.
|
||
Epub 2021 Sep 27
|
||
doi: 10.1111/andr.13106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34510807" target="_blank">34510807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26319695">Twenty-year trends in neonatal surgery based on a nationwide Japanese surveillance program.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagi M,
|
||
Kohno M,
|
||
Asagiri K,
|
||
Ikeda T,
|
||
Okada T,
|
||
Kanada S,
|
||
Kawashima S,
|
||
Goto Y,
|
||
Takano S,
|
||
Yasufuku M,
|
||
Wada M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2015 Oct;31(10):955-62.
|
||
Epub 2015 Aug 30
|
||
doi: 10.1007/s00383-015-3775-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26319695" target="_blank">26319695</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22052692">A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umaña LA,
|
||
Magoulas P,
|
||
Bi W,
|
||
Bacino CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 Dec;155A(12):3071-4.
|
||
Epub 2011 Nov 3
|
||
doi: 10.1002/ajmg.a.34296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22052692" target="_blank">22052692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17120758">Overview of the SLC26 family and associated diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kere J</span><br />
|
||
<span class="medgenPMjournal">Novartis Found Symp</span>
|
||
2006;273:2-11; discussion 11-8, 261-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17120758" target="_blank">17120758</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (32)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/40047934">Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang R,
|
||
Li H,
|
||
Qiang R,
|
||
Gao X,
|
||
Guo J,
|
||
Chen G,
|
||
Nan Q,
|
||
Zhong L,
|
||
Wang L</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomics</span>
|
||
2025 Mar 6;300(1):28.
|
||
doi: 10.1007/s00438-025-02233-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40047934" target="_blank">40047934</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20intestinal%20transport%20defect%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 (1)</a></div></div>
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