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Selected Works of Chitra Prasad
Article
Isolated sulfite oxidase deficiency: a founder mutation.
Cold Spring Harbor Molecular Case Studies
  • Aizeddin A Mhanni
  • Cheryl R Greenberg
  • Elizabeth L Spriggs
  • Ronald Agatep
  • Reena Ray Sisk
  • Chitra Prasad, London Health Sciences Centre, Western University, London, Ontario N6A 5A5, Canada
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Document Type
Article
Publication Date
12-1-2020
URL with Digital Object Identifier
http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs.a005900
Disciplines
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

Creative Commons License
Creative Commons Attribution-Noncommercial 4.0
Citation Information
Aizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, Ronald Agatep, et al.. "Isolated sulfite oxidase deficiency: a founder mutation." Cold Spring Harbor Molecular Case Studies Vol. 6 Iss. 6 (2020)
Available at: http://works.bepress.com/chitra-prasad/12/