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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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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Işık, Emregül, Demirbilek, Hüseyin, Houghton, Jayne A., Ellard, Sian, Flanagan, Sarah E., Hussain, Khalid
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6398184/
https://ncbi.nlm.nih.gov/pubmed/29739729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0077
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