Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I

Clinical Chemistry

Volumn 50, Issue 8, 2004, Pages 1447-1450

  Loupatty, Ference J ^a   Ruiter, Jos P N ^a   Ijlst, Lodewijk ^a   Duran, Marinus ^a   Wanders, Ronald J A ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTACONYL COA HYDRATASE; ACETONITRILE; HYDROLYASE; MEVALONIC ACID; POTASSIUM DIHYDROGEN PHOSPHATE; UNCLASSIFIED DRUG;

3 METHYLGLUTACONIC ACIDURIA TYPE I; ACIDURIA; ANALYTIC METHOD; ARTICLE; BARTH SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DERIVATIZATION; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; HYDROLYSIS; INBORN ERROR OF METABOLISM; INCUBATION TIME; MATHEMATICAL MODEL; REFERENCE VALUE; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SKIN FIBROBLAST; ULTRAVIOLET RADIATION;

CELLS, CULTURED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ENZYME TESTS; FIBROBLASTS; HUMANS; HYDRO-LYASES; SKIN; SPECTROPHOTOMETRY, ULTRAVIOLET;

EID: 3242772185     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.033142     Document Type: Article

References (19)

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