Laforêt, Pascal

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. [electronic resource] - Neuromuscular disorders : NMD May 2009 - 324-9 p. digital

Publication Type: Journal Article

1873-2364

10.1016/j.nmd.2009.02.007 doi


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