Acylcarnitine analysis in the investigation of myopathy

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 427-428

  Moore, S J ^a,c   Haites, N E ^a   Broom, I ^a   White, I ^a   Coleman, R J ^a   Pourfarzam, M ^b   Morris, A A M ^b  

^a NHS GRAMPIAN   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c ABERDEEN ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; GLUTARIC ACID; RIBOFLAVIN; TRIACYLGLYCEROL;

ACIDURIA; ADULT; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; MUSCLE BIOPSY; MYOPATHY; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; FATTY ACID DESATURASES; FEMALE; GLUTARATES; HUMANS; MUSCULAR DISEASES;

EID: 0031848399     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005319011531     Document Type: Article

References (2)

1. Mantagos S, Genel M, Tanaka K (1979) Ethylmalonic-adipic aciduria. J Clin Invest 64: 1580-1589.
2. de Visser M, Scholte HR, Schutgens RBH et al (1986) Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology 36: 367-372.