Utilize este identificador para referenciar este registo: http://hdl.handle.net/10451/21411
Título: Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS
Autor: Costa, CG
Guerand, WS
Struys, EA
Holwerda, U
ten Brink, HJ
de Almeida, IT
Duran, M
Jakobs, C
Palavras-chave: Chemistry, Analytical
Pharmacology & Pharmacy
Data: 2000
Citação: JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS. - Vol. 21, n. 6 (JAN 2000), p. 1215-1224
Resumo: The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the quantitative analysis of short and medium-chain acylglycines as their bis(trifluoromethyl)benzyl (BTFMB) ester derivatives is described. The diagnostic usefulness of the method was demonstrated in nine patients with medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, and seven patients with multiple acyl-CoA dehydrogenation defect (MAD). The urinary acylglycine profiles in these patients were compared to those in controls (n = 19), children on a medium-chain triglyceride (MCT) supplemented diet (n = 4), and patients with various other diseases (n = 5). (C) 2000 Elsevier Science B.V. All rights reserved.
URI: http://hdl.handle.net/10451/21411
ISSN: 0731-7085
Aparece nas colecções:FF - Produção Científica 2000-2009

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