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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Endocrinol
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2021
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611977/
https://ncbi.nlm.nih.gov/pubmed/34633981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-21-0476
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