Isolated sulfite oxidase deficiency: a founder mutation

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 S-sulfocysteine. Missed diagnosis is not unusual b...

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Detalles Bibliográficos
Autores principales: Mhanni, Aizeddin A., Greenberg, Cheryl R., Spriggs, Elizabeth L., Agatep, Ronald, Sisk, Reena Ray, Prasad, Chitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784486/
https://www.ncbi.nlm.nih.gov/pubmed/33335014
http://dx.doi.org/10.1101/mcs.a005900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784486/
https://www.ncbi.nlm.nih.gov/pubmed/33335014
http://dx.doi.org/10.1101/mcs.a005900

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