Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 411-414

  Vianey Saban, C ^a   Guffon, N ^a   Delolne, F ^b   Guibaud, P ^a   Mathieu, M ^a   Divry, P ^a  

^a HÔPITAL DEBROUSSE   (France)

^b Lab Spectrometrie de Masse du CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; LONG CHAIN FATTY ACID;

AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; FATTY ACID OXIDATION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LIPID BLOOD LEVEL; MITOCHONDRIAL RESPIRATION; NEWBORN; TANDEM MASS SPECTROMETRY;

CARNITINE; CHILD; CHROMATOGRAPHY, LIQUID; FATTY ACIDS; FEMALE; HUMANS; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION; PREGNANCY;

EID: 0030816023     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005306818025     Document Type: Conference Paper

References (2)

1. Millington DS, Chace DH (1992) Carnitine and acylcarnitines in metabolic disease diagnosis and management. In Desiderio DM, ed. Mass Spectrometry: Clinical and Biomedical Applications, vol. 1. New York: Plenum Press, 299-318.
2. Millington DS, Terada N, Chace DH, et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation defects. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. New York: Wiley-Liss, 339-354.