TY  - GEN
AU  - Smith,Emily Helen
AU  - Gavrilov,Dimitar K
AU  - Oglesbee,Devin
AU  - Freeman,William D
AU  - Vavra,Michael W
AU  - Matern,Dietrich
AU  - Tortorelli,Silvia
TI  - An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
SN  - 1573-2665
PY  - 2014///0408
KW  - Age of Onset
KW  - Biomarkers
KW  - blood
KW  - DNA Mutational Analysis
KW  - Fatty Acids
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Leukoencephalopathies
KW  - etiology
KW  - Lipid Metabolism, Inborn Errors
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Nervous System Diseases
KW  - Phenotype
KW  - Phytanic Acid
KW  - Racemases and Epimerases
KW  - Remission Induction
KW  - Seizures
KW  - Treatment Outcome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10545-010-9183-6
ER  -