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Article

Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.

Developmental medicine and child neurology - 1 Jan 1998

Hughes E F, Fairbanks L, Simmonds H A, Robinson R O

Abstract excerpt

In a family with molybdenum cofactor deficiency, the onset in the index case was delayed until 1 year of age, when the patient presented with an episode of lethargy and inconsolable crying culminating in a seizure. By 17 months she showed mild motor delay, regression in language skills, and feedi...

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Identifiers

PMID: 9459218
DOI: 10.1111/j.1469-8749.1998.tb15357.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9459218-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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