Isolated sulfite oxidase deficiency: a founder mutation.
increased urinary sulfite
increased urinary thiosulfate
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
12
10
2020
accepted:
05
11
2020
entrez:
18
12
2020
pubmed:
19
12
2020
medline:
15
9
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 33335014
pii: mcs.a005900
doi: 10.1101/mcs.a005900
pmc: PMC7784486
pii:
doi:
Substances chimiques
Thiosulfates
0
Uric Acid
268B43MJ25
Sulfite Oxidase
EC 1.8.3.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 Mhanni et al.; Published by Cold Spring Harbor Laboratory Press.
Références
Cell. 1997 Dec 26;91(7):973-83
pubmed: 9428520
J Clin Invest. 1976 Sep;58(3):551-6
pubmed: 956384