Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

We have previously described the only reported case of human proprotein convertase 1 (PC1) deficiency, in a female (Subject A) with obesity, hypogonadism, hypoadrenalism, and reactive hypoglycemia. We now report the second case of human PC1 deficiency (Subject B), also due to compound heterozygosity...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Jackson, Robert S., Creemers, John W.M., Farooqi, I. Sadaf, Raffin-Sanson, Marie-Laure, Varro, Andrea, Dockray, Graham J., Holst, Jens J., Brubaker, Patricia L., Corvol, Pierre, Polonsky, Kenneth S., Ostrega, Diane, Becker, Kenneth L., Bertagna, Xavier, Hutton, John C., White, Anne, Dattani, Mehul T., Hussain, Khalid, Middleton, Stephen J., Nicole, Thomasina M., Milla, Peter J., Lindley, Keith J., O’Rahilly, Stephen
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Clinical Investigation 2003
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC259128/
https://ncbi.nlm.nih.gov/pubmed/14617756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200318784
الوسوم: إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

مواد مشابهة