3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. [electronic resource]
Producer: 20090814Description: 478-81 p. digitalISSN:- 1708-8283
- Adult
- Brain -- enzymology
- Carbon-Carbon Ligases -- deficiency
- Carnitine -- metabolism
- Cells, Cultured
- Child, Preschool
- DNA Mutational Analysis
- Epilepsy -- enzymology
- Fibroblasts -- enzymology
- Gene Deletion
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- Glycine -- analogs & derivatives
- Humans
- Infant
- Language Development Disorders -- enzymology
- Male
- Mutation -- genetics
- Phenotype
- Valerates -- urine
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Publication Type: Case Reports; Journal Article
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