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Article

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

American journal of medical genetics. Part A - 15 Oct 2007

Tsai Anne Chun-Hui, Morel Chantal F, Scharer Gunter, Yang Michael, Lerner-Ellis Jordan P, Rosenblatt David S, Thomas Janet A

Abstract excerpt

We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical histo...

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Source

Identifiers

PMID: 17853453
DOI: 10.1002/ajmg.a.31932

Genes

MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17853453-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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