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Article

A Turkish case with molybdenum cofactor deficiency.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2006

Ichida K, Aydin H Ibrahim, Hosoyamada M, Kalkanoglu H Serap, Dursun A, Ohno I, Coskun T, Tokatli A, Shibasaki T, Hosoya T

Abstract excerpt

Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We...

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Source

Identifiers

PMID: 17065069
DOI: 10.1080/15257770600894022

Genes

MOCS1
CGA
MOCS2
MOCS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17065069-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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A Turkish case with molybdenum cofactor deficiency.PMID 17065069Read ↗

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].Semantic proximity Read ↗

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.Semantic proximity Read ↗

Molybdenum cofactor deficiency: clinical features in a Turkish patient.Semantic proximity Read ↗

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.Semantic proximity Read ↗

Novel Pathogenic Variant in a Mild Case of Type B Molybdenum Cofactor Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.Semantic proximity Read ↗

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