Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC 8 gene: response to appropriate therapy

Abstract excerpt

Abstract Aims To examine the phenotypic features of people identified with ABCC8‐maturity‐onset diabetes of the young (MODY) who were included in the adult ‘Mater MODY’ cohort and to establish their response to sulfonylurea therapy. Methods Ten participants with activating ABCC8 mutations were phenotyped in detail. A 2‐hour oral glucose tolerance test was performed to establish glycaemic tolerance, with glucose,...

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