Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

OBJECTIVE: Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identif...

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Vydáno v:Gut
Hlavní autoři: Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2016
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Colon
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4975829/
https://ncbi.nlm.nih.gov/pubmed/25994218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/gutjnl-2015-309441
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