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Article

Molybdenum cofactor deficiency: first prenatal genetic analysis.

Prenatal diagnosis - 1 Apr 1999

Reiss J, Christensen E, Dorche C

Abstract excerpt

Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdo-enzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. No therapy is known for this rare disease, which results in neonatal seizures and other neurological symptoms identical to sulphite oxidase de...

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Source

Identifiers

PMID: 10327149
DOI: 10.1002/(sici)1097-0223(199904)19:4<386::aid-pd550>3.0.co;2-#

Genes

MOCS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10327149-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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