Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been...

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Detalles Bibliográficos
Autores principales: Işık, Emregül, Demirbilek, Hüseyin, Houghton, Jayne A., Ellard, Sian, Flanagan, Sarah E., Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398184/
https://www.ncbi.nlm.nih.gov/pubmed/29739729
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398184/
https://www.ncbi.nlm.nih.gov/pubmed/29739729
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0077

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