Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
William J. Rhead(Children's Hospital of Wisconsin), Kay Tanaka(Yale University)
Cited by 74
Related Papers
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
|New England Journal of Medicine|2007|357
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
|Proceedings of the National Academy of Sciences|1998|254
‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry
|Journal of Inherited Metabolic Disease|2006|247
Phenylketonuria in adulthood: A collaborative study
|Journal of Inherited Metabolic Disease|2002|215
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
|Genetics in Medicine|2012|212