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Article

Isolated sulfite oxidase deficiency.

Journal of inherited metabolic disease - 1 Jan 2018

Claerhout Helena, Witters Peter, Régal Luc, Jansen Katrien, Van Hoestenberghe Marie-Rose, Breckpot Jeroen, Vermeersch Pieter

Abstract excerpt

Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity,...

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Source

Identifiers

PMID: 28980090
DOI: 10.1007/s10545-017-0089-4

Genes

SUOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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