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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| Hauptverfasser: | , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Karger Publishers
2021-03-01
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| Schriftenreihe: | Case Reports in Gastroenterology |
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| Online-Zugang: | https://www.karger.com/Article/FullText/511761 |
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