Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. [electronic resource]
Producer: 20041222Description: 60-4 p. digitalISSN:- 0031-3998
- Acetyl-CoA C-Acyltransferase -- deficiency
- Acyl Coenzyme A -- metabolism
- Cell Line, Transformed
- Child, Preschool
- DNA, Complementary
- Enzyme Activation
- Fibroblasts -- cytology
- Humans
- Immunoblotting
- Infant
- Infant, Newborn
- Male
- Metabolism, Inborn Errors -- diagnosis
- Mitochondria -- enzymology
- Point Mutation
- Severity of Illness Index
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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