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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...

詳細記述

保存先:
書誌詳細
出版年:Case Rep Gastroenterol
主要な著者: Ahmed, Amna Basheer M., Alsaleem, Badr M. Rasheed
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2021
主題:
オンライン・アクセス: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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