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Article

[Peripheral nervous impairment in a patient with methylmalonic aciduria combined with hyperhomocysteinemia].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Apr 2013

Ji Tao-yun, Zhang Yue-hua, Li Fei-tian, Qin Jiong, Yang Yan-ling

Abstract excerpt

Methylmalonic aciduria combined homocysteinemia can cause multisystemic damages, mainly involving central nervous system, while the peripheral nerves are rarely impaired. A 10-year-old boy complained of weakness of both lower extremities for 1 month. His past history showed mildly delay of intelligence as well as motor development. He had proteinuria when he was 3 years old and was diagnosed as epilepsy, which...

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Source

Identifiers

PMID: 23591356

Genes

MMACHC

Variants

Provenance

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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