3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy

Annals of Neurology

Volumn 56, Issue 5, 2004, Pages 727-730

  Bischof, Felix ^a   Nagele, Thomas ^b   Wanders, Ronald J A ^c   Trefe, Friedrich K ^b   Melms, Arthur ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCARNITINE; CARNITINE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LEUCINE; LYASE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; CASE REPORT; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; FEMALE; GAS CHROMATOGRAPHY; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPOGLYCEMIA; LEUKOENCEPHALOPATHY; MASS SPECTROMETRY; METABOLIC DISORDER; METABOLITE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SKIN FIBROBLAST; TANDEM MASS SPECTROMETRY;

EID: 9144241866     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20280     Document Type: Article

References (16)

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