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Article

A novel mutation in neonatal isolated sulphite oxidase deficiency.

Neuropediatrics - 1 Aug 2002

Lee H F, Mak B S C, Chi C S, Tsai C R, Chen C H, Shu S G

Abstract excerpt

Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in...

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Identifiers

PMID: 12368985
DOI: 10.1055/s-2002-34491

Genes

SUOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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