An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Smith, Emily Helen ^a   Gavrilov, Dimitar K ^a   Oglesbee, Devin ^a   Freeman, William D ^b   Vavra, Michael W ^b   Matern, Dietrich ^a   Tortorelli, Silvia ^a  

^a MAYO CLINIC   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; ALPHA-METHYLACYL-COA RACEMASE; BIOLOGICAL MARKER; FATTY ACID; ISOMERASE; PHYTANIC ACID; PRISTANIC ACID;

ARTICLE; BLOOD; CASE REPORT; DIET THERAPY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; HUMAN; LEUKOENCEPHALOPATHY; MALE; MIDDLE AGED; MUTATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; REMISSION; SEIZURE; TREATMENT OUTCOME; COMPLICATION; DEFICIENCY; LEUKOENCEPHALOPATHIES; LIPID METABOLISM, INBORN ERRORS; NERVOUS SYSTEM DISEASES; SEIZURES;

AGE OF ONSET; BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; LIPID METABOLISM, INBORN ERRORS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; PHYTANIC ACID; RACEMASES AND EPIMERASES; REMISSION INDUCTION; SEIZURES; TREATMENT OUTCOME;

EID: 84897956089     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9183-6     Document Type: Article

References (10)

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