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Article

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

The Turkish journal of pediatrics - 1 Jan 2000

Kılıç Mustafa, Özgül Rıza Köksal, Dursun Ali, Tokatlı Ayşegül, Kalkanoğlu-Sivri Hatice Serap, Anlar Banu, Fowler Brian, Coşkun Turgay

Abstract excerpt

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-onset....

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Source

Identifiers

PMID: 24577983

Genes

MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24577983-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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