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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989775/ https://www.ncbi.nlm.nih.gov/pubmed/33790717 http://dx.doi.org/10.1159/000511761 |