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Article

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

European journal of endocrinology - 1 Jun 2014

Demirbilek Huseyin, Arya Ved Bhushan, Ozbek Mehmet Nuri, Akinci Aysehan, Dogan Murat, Demirel Fatma, Houghton Jayne, Kaba Sultan, Guzel Fatma, Baran Riza Taner, Unal Sevim, Tekkes Selahattin, Flanagan Sarah E, Ellard Sian, Hussain Khalid

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype-phenotype correlations and describe the treatment outcome of Turkish CHI...

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Topics

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Share to Congenital Hyperinsulinism
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Infant, Newborn

Share to KATP Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Sulfonylurea Receptors

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Source

Identifiers

PMID: 24686051
DOI: 10.1530/EJE-14-0045

Genes

ABCC8
KCNJ11

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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