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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 homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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

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

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