Article
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.
Prenatal diagnosis - 1 May 2002
Johnson J L, Rajagopalan K V, Renier W O, Van der Burgt I, Ruitenbeek W
Abstract excerpt
Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical...
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