Smith, Emily Helen <br/><br/>
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2010 
 - S349-53 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-010-9183-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Biomarkers--blood<br/>DNA Mutational Analysis<br/>Fatty Acids--blood<br/>Genetic Predisposition to Disease<br/>Homozygote<br/>Humans<br/>Leukoencephalopathies--etiology<br/>Lipid Metabolism, Inborn Errors--blood<br/>Magnetic Resonance Imaging<br/>Male<br/>Middle Aged<br/>Mutation<br/>Nervous System Diseases--blood<br/>Phenotype<br/>Phytanic Acid--blood<br/>Racemases and Epimerases--blood<br/>Remission Induction<br/>Seizures--etiology<br/>Treatment Outcome