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Article

Isolated sulfite oxidase deficiency: review of two cases in one family.

Ophthalmology - 1 Oct 1999

Edwards M C, Johnson J L, Marriage B, Graf T N, Coyne K E, Rajagopalan K V, MacDonald I M

Abstract excerpt

OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation stresses the importance of ophthalmic assessment in making the diagnosis. DESIGN: Two...

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Identifiers

PMID: 10519592
DOI: 10.1016/S0161-6420(99)90408-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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