Article
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Gastroenterology - 1 Jul 2013
Martín Martín G, Lindberg Iris, Solorzano-Vargas R Sergio, Wang Jiafang, Avitzur Yaron, Bandsma Robert, Sokollik Christiane, Lawrence Sarah, Pickett Lindsay A, Chen Zijun, Egritas Odul, Dalgic Buket, Albornoz Valeria, de Ridder Lissy, Hulst Jessie, Gok Faysal, Aydoğan Ayşen, Al-Hussaini Abdulrahman, Gok Deniz Engin, Yourshaw Michael, Wu S Vincent, Cortina Galen, Stanford Sara, Georgia Senta
Abstract excerpt
BACKGROUND & AIMS: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in PCSK1 also have been associated with obesity in heterozygotes in several population-based studies. PC1/3...
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