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Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence

OBJECTIVE—Congenital hyperinsulinism, usually associated with severe neonatal hypoglycemia, may progress to diabetes, typically during the 4th decade of life in nonpancreatectomized patients. We aimed to genotype the ATP-sensitive K(+) channel in a 10.5-year-old girl presenting with overt diabetes f...

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Detalles Bibliográficos
Autores principales: Abdulhadi-Atwan, Maha, Bushmann, Jeremy, Tornovsky-Babaey, Sharona, Perry, Avital, Abu-Libdeh, Abdulsalam, Glaser, Benjamin, Shyng, Show-Ling, Zangen, David H.
Formato: Texto
Lenguaje:English
Publicado: American Diabetes Association 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2453628/
https://www.ncbi.nlm.nih.gov/pubmed/18390792
http://dx.doi.org/10.2337/db08-0159