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Article

Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2016

Warncke Katharina, Falco Franziska, Rabl Wolfgang, Engelsberger Ilse, Saier Julia, Flores-Rodriguez David, Burdach Stefan, Bonfig Walter

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children's Hospital Schwabing. METHODS: We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit. RESULTS: All patients had severe, diazoxide-(DZX)-resistant...

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Source

Identifiers

PMID: 27682711
DOI: 10.1515/jpem-2016-0103

Genes

ABCC8

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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