An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. [electronic resource]
Producer: 20140408Description: S349-53 p. digitalISSN:- 1573-2665
- Age of Onset
- Biomarkers -- blood
- DNA Mutational Analysis
- Fatty Acids -- blood
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Leukoencephalopathies -- etiology
- Lipid Metabolism, Inborn Errors -- blood
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Nervous System Diseases -- blood
- Phenotype
- Phytanic Acid -- blood
- Racemases and Epimerases -- blood
- Remission Induction
- Seizures -- etiology
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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