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Article

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

European journal of endocrinology - 1 Jun 2016

Martínez R, Fernández-Ramos C, Vela A, Velayos T, Aguayo A, Urrutia I, Rica I, Castaño L

Abstract excerpt

CONTEXT: Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic β-cells. OBJECTIVE: To characterize clinically and genetically CHI patients in Spain. DESIGN AND METHODS: We included 50 patients with CHI from Spain. Clinical information was provided by the referring clinicians. Mutational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27188453
DOI: 10.1530/EJE-16-0027

Genes

ABCC8
GCK
GLUD1
HADH
KCNJ11
UCP2

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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