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Article

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.

Diabetes - 1 Jul 2008

Abdulhadi-Atwan Maha, Bushman Jeremy, Bushmann Jeremy, Tornovsky-Babaey Sharona, Perry Avital, Abu-Libdeh Abdulsalam, Glaser Benjamin, Shyng Show-Ling, Zangen David H

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinism, usually associated with severe neonatal hypoglycemia, may progress to diabetes, typically during the 4th decade of life in nonpancreatectomized patients. We aimed to genotype the ATP-sensitive K(+) channel in a 10.5-year-old girl presenting with overt diabetes following hyperinsulinism in infancy. RESEARCH DESIGN AND METHODS: A female aged 10.5 years presented with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18390792
DOI: 10.2337/db08-0159
PMCID: PMC2453628

Genes

ABCC8
KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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