Cargando…
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11
OBJECTIVE: Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the clinical features that help to identify KATP-hyperinsu...
Autores principales: | Hewat, Thomas I., Yau, Daphne, Jerome, Joseph C. S., Laver, Thomas W., Houghton, Jayne A. L., Shields, Beverley M., Flanagan, Sarah E., Patel, Kashyap A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611977/ https://www.ncbi.nlm.nih.gov/pubmed/34633981 http://dx.doi.org/10.1530/EJE-21-0476 |
Ejemplares similares
-
Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
por: Hussain, Suhaimi, et al.
Publicado: (2015) -
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
por: Park, Ji Sook, et al.
Publicado: (2016) -
Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
por: Al Balwi, Rana, et al.
Publicado: (2021) -
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
por: Kiff, Sarah, et al.
Publicado: (2019) -
Efficacy and safety of octreotide treatment for diazoxide‐unresponsive congenital hyperinsulinism in China
por: Cao, Bingyan, et al.
Publicado: (2020)