Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations. While we recently described four cases of the non-syndromic form of CSD that were caused...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Hum Mol Genet
المؤلفون الرئيسيون: Janecke, Andreas R., Heinz-Erian, Peter, Yin, Jianyi, Petersen, Britt-Sabina, Franke, Andre, Lechner, Silvia, Fuchs, Irene, Melancon, Serge, Uhlig, Holm H., Travis, Simon, Marinier, Evelyne, Perisic, Vojislav, Ristic, Nina, Gerner, Patrick, Booth, Ian W., Wedenoja, Satu, Baumgartner, Nadja, Vodopiutz, Julia, Frechette-Duval, Marie-Christine, De Lafollie, Jan, Persad, Rabindranath, Warner, Neil, Tse, C. Ming, Sud, Karan, Zachos, Nicholas C., Sarker, Rafiquel, Zhu, Xinjun, Muise, Aleixo M., Zimmer, Klaus-Peter, Witt, Heiko, Zoller, Heinz, Donowitz, Mark, Müller, Thomas
التنسيق: Artigo
اللغة:Inglês
منشور في: Oxford University Press 2015
الموضوعات:
Articles
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC4634371/
https://ncbi.nlm.nih.gov/pubmed/26358773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv367
الوسوم: إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

مواد مشابهة