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Article

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

Clinical endocrinology - 1 Nov 2014

Maiorana Arianna, Barbetti Fabrizio, Boiani Arianna, Rufini Vittoria, Pizzoferro Milena, Francalanci Paola, Faletra Flavio, Nichols Colin G, Grimaldi Chiara, de Ville de Goyet Jean, Rahier Jacques, Henquin Jean-Claude, Dionisi-Vici Carlo

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the...

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Identifiers

PMID: 24383515
DOI: 10.1111/cen.12400

Genes

ABCC8
KCNJ11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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