Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. [electronic resource]
Producer: 20090728Description: 324-9 p. digitalISSN:- 1873-2364
- Acyl-CoA Dehydrogenase, Long-Chain -- genetics
- Adolescent
- Adult
- Biomarkers -- analysis
- Carnitine -- analogs & derivatives
- Cells, Cultured
- Child
- DNA Mutational Analysis
- Exercise Tolerance -- genetics
- Female
- Genetic Testing
- Genotype
- Heterozygote
- Homozygote
- Humans
- Male
- Metabolism, Inborn Errors -- diagnosis
- Middle Aged
- Mitochondrial Diseases -- diagnosis
- Muscle Weakness -- enzymology
- Muscular Diseases -- diagnosis
- Mutation -- genetics
- Rhabdomyolysis -- enzymology
- Young Adult
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Publication Type: Journal Article
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