Results 121 to 129 of about 2,001,857 (129)

Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients

Brain and Development, 2020
Jitendra K Sahu, Arushi Gahlot Saini, Indar Kumar Sharawat   +2 more
exaly  

Isolated Sulfite Oxidase Deficiency

Neuropediatrics, 1996
K V Rajagopalan, C A Rupar
exaly  

in a late-onset form of isolated sulfite oxidase deficiency

Molecular Genetics and Metabolism, 2013
Alberto B Burlina, Alessandro Burlina, Renzo Manara   +2 more
exaly  

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

Prenatal Diagnosis, 2003
Jean L Johnson
exaly  

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

Human Mutation, 2002
Caroline Kisker, K V Rajagopalan, Claude Dorche   +2 more
exaly  

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency

Human Molecular Genetics, 2019
Leo Kurian, Guenter Schwarz, Daniel Bender   +2 more
exaly  

Sulfite oxidase deficiency and the detection of urinary sulfite

European Journal of Pediatrics, 1983
S K Wadman, P K de Bree
exaly  

Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature Available to Purchase

Pediatrics, 2005
Florian S Eichler, Wen-Hann Tan, Patricia Grant   +2 more
exaly  

Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency

American Journal of Medical Genetics, Part A, 2005
exaly