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Extremes of Clinical and Enzymatic Phenotypes in Children With Hyperinsulinism Caused by Glucokinase Activating Mutations

OBJECTIVE: Heterozygous activating mutations of glucokinase have been reported to cause hypoglycemia attributable to hyperinsulinism in a limited number of families. We report three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of clinical phenotypes correspond...

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Detalles Bibliográficos
Autores principales: Sayed, Samir, Langdon, David R., Odili, Stella, Chen, Pan, Buettger, Carol, Schiffman, Alisa B., Suchi, Mariko, Taub, Rebecca, Grimsby, Joseph, Matschinsky, Franz M., Stanley, Charles A.
Formato: Texto
Lenguaje:English
Publicado: American Diabetes Association 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2682682/
https://www.ncbi.nlm.nih.gov/pubmed/19336674
http://dx.doi.org/10.2337/db08-1792