3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Reimao S ^a,c   Morgado, C ^a   Almeida, I T ^b   Silva, M ^b   Real, H Corte ^a   Campos, J ^a  

^a UNIVERSITY OF LISBON   (Portugal)

^b RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^c HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE; ACETYL COENZYME A ACETYLTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LEUCINE; LYASE;

ADULT; ARTICLE; BRAIN; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FATALITY; GENETICS; HUMAN; MALE; METABOLISM; ONSET AGE; PATHOLOGY;

ACETYL-COA C-ACETYLTRANSFERASE; ADULT; AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; FATAL OUTCOME; HUMANS; LEUCINE; MALE; OXO-ACID-LYASES;

EID: 84881071542     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1048-5     Document Type: Article

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