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Article

The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.

The Turkish journal of pediatrics - 1 Jan 2023

Aleksic Dejan, Jankovic Marina Gazdic, Todorovic Stefan, Kovacevic Marija, Borkovic Milan

Abstract excerpt

BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative phosphorylation system. Death usually appears in the first weeks or years of lifespan. CASE: We report a male patient with ventriculomegaly diagnosed in the 8th month...

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Source

Identifiers

PMID: 38204316
DOI: 10.24953/turkjped.2022.1082

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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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