Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC 8 gene: response to appropriate therapy
Author:
Affiliation:
1. Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland
2. Department of Molecular Genetics Royal Devon and Exeter NHS Foundation Trust Exeter UK
Publisher
Wiley
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dme.14145
Reference30 articles.
1. Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes
2. Intracellular ATP directly blocks K+ channels in pancreatic B-cells
3. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
4. Activating Mutations in theABCC8Gene in Neonatal Diabetes Mellitus
5. A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement;Ando A;Endocrinol Diabetes Metab Case Rep,2018
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