Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and other Endocrinopathies in a Pediatric Cohort

BACKGROUND & AIMS: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal recessive disorder caused by rare mutations in the PCSK1 gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in PCSK1 have also been associated wi...

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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3719133/
https://ncbi.nlm.nih.gov/pubmed/23562752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2013.03.048
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