Paediatrics Publications
Document Type
Article
Publication Date
12-1-2020
Journal
Cold Spring Harbor Molecular Case Studies
Volume
6
Issue
6
URL with Digital Object Identifier
http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs.a005900
Abstract
Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and
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