Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy

BACKGROUND: Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line medication for CHI, is usually ineffective in recessive ABCC8 mutations. We des...

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Detalles Bibliográficos
Autores principales: Arya, Ved Bhushan, Aziz, Qadeer, Nessa, Azizun, Tinker, Andrew, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290134/
https://www.ncbi.nlm.nih.gov/pubmed/25584046
http://dx.doi.org/10.1186/1687-9856-2014-24

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290134/
https://www.ncbi.nlm.nih.gov/pubmed/25584046
http://dx.doi.org/10.1186/1687-9856-2014-24

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