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Article

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2004

Meissner Thomas, Mayatepek Ertan, Kinner Martina, Santer René

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is the most frequent cause of recurrent episodes of hypoglycemia in infancy and results from different underlying genetic defects. The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the g...

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Source

Identifiers

PMID: 14967154
DOI: 10.1016/j.cccn.2003.10.023

Genes

GLUD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14967154-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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