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...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: 2013
Hasła przedmiotowe:
Article
Dostęp online: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
Etykiety: Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!

Podobne zapisy