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Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.

Pediatric diabetes - 1 Nov 2022

Warncke Katharina, Eckert Alexander, Kapellen Thomas, Kummer Sebastian, Raile Klemens, Dunstheimer Desiree, Grulich-Henn Jürgen, Woelfle Joachim, Wenzel Sandra, Hofer Sabine E, Dost Axel, Holl Reinhard W

Abstract excerpt

OBJECTIVE: To describe clinical presentation/longterm outcomes of patients with ABCC8/KCNJ11 variants in a large cohort of patients with diabetes. RESEARCH DESIGN AND METHODS: We analyzed patients in the Diabetes Prospective Follow-up (DPV) registry with diabetes and pathogenic variants in the ABCC8/KCNJ11 genes. For patients with available data at three specific time-points-classification as K+ -channel variant,...

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PMID: 35822653
DOI: 10.1111/pedi.13390

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