Enteroendocrine Dysfunction in Two Saudi Sisters
Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in th...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Karger Publishers
2021-03-01
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Series: | Case Reports in Gastroenterology |
Subjects: | |
Online Access: | https://www.karger.com/Article/FullText/511761 |