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...

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Bibliographic Details
Published in:Case Rep Gastroenterol
Main Authors: Ahmed, Amna Basheer M., Alsaleem, Badr M. Rasheed
Format: Artigo
Language:Inglês
Published: S. Karger AG 2021
Subjects:
Case Series
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7989775/
https://ncbi.nlm.nih.gov/pubmed/33790717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000511761
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