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Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations

The importance of glucokinase (GK) in the regulation of insulin secretion has been highlighted by the phenotypes of individuals with activating and inactivating mutations in the glucokinase gene (GCK). Here we report 10 individuals with congenital hyperinsulinism (HI) caused by eight unique activati...

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Detalles Bibliográficos
Autores principales:	Li, Changhong, Juliana, Christine A., Yuan, Yue, Li, Ming, Lu, Ming, Chen, Pan, Boodhansingh, Kara E., Doliba, Nicolai M., Bhatti, Tricia R., Adzick, N. Scott, Stanley, Charles A., De León, Diva D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Diabetes Association 2023
Materias:	Islet Studies
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658072/ https://www.ncbi.nlm.nih.gov/pubmed/37725835 http://dx.doi.org/10.2337/db23-0465

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