Modulation of PC1/3 activity by a rare double-site homozygous mutation

OBJECTIVES: Preprotein convertase 1/3 deficiency is a rare autosomal recessive disorder in which patients present with malabsorptive diarrhea and a series of symptoms of endocrine disorders such as polydipsia, reactive hypoglycemia, growth hormone deficiency, hypothyroidism, adrenal insufficiency, a...

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Detalles Bibliográficos
Autores principales: Ni, Yanyan, Chen, Xiangxiang, Sun, Yi, Pan, Jiarong, Tang, Chao, Yuan, Tianming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659753/
https://www.ncbi.nlm.nih.gov/pubmed/36389395
http://dx.doi.org/10.3389/fped.2022.1026707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659753/
https://www.ncbi.nlm.nih.gov/pubmed/36389395
http://dx.doi.org/10.3389/fped.2022.1026707

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