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...

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Main Authors: 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
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2003
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Online Access: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
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