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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2003
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Article
Acesso em linha: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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