Cargando…
Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1
OBJECTIVE: Congenital hyperinsulinemic hypoglycemia is a group of genetic disorders of insulin secretion most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (SUR1) and KCNJ11 (Kir6.2). Recessive mutations of these genes cause hyp...
Autores principales: | MacMullen, Courtney M., Zhou, Qing, Snider, Kara E., Tewson, Paul H., Becker, Susan A., Aziz, Ali Rahim, Ganguly, Arupa, Shyng, Show-Ling, Stanley, Charles A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Diabetes Association
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114386/ https://www.ncbi.nlm.nih.gov/pubmed/21536946 http://dx.doi.org/10.2337/db10-1631 |
Ejemplares similares
-
Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
por: Hussain, Suhaimi, et al.
Publicado: (2015) -
Efficacy and safety of octreotide treatment for diazoxide‐unresponsive congenital hyperinsulinism in China
por: Cao, Bingyan, et al.
Publicado: (2020) -
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
por: Lee, Cheng-Ting, et al.
Publicado: (2023) -
Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping
por: Boodhansingh, Kara E., et al.
Publicado: (2019) -
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
por: Park, Ji Sook, et al.
Publicado: (2016)