Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency

Author:

Libert R.1,Van Hoof F.1,Thillaye M.1,Vincent M.-F.1,Nassogne M.-C.1,Stroobant V.2,de Hoffmann E.2,Schanck A.3

Affiliation:

1. ; Laboratoire des Maladies Métaboliques, Département de Biologie Clinique; Cliniques Universitaires St Luc; Brussels Belgium

2. ; Laboratoire de Spectrométrie de Masse; Université Catholique de Louvain, Département de Chimie; Louvain-la-Neuve Belgium

3. ; Laboratoire de Chimie Physique et de Cristallographie and Research Center for Advanced Materials; Université Catholique de Louvain, Département de Chimie; Louvain-la-Neuve Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. The detection of abnormal metabolites in MCAD deficiency: a new method;Blom;J Inher Metab Dis,1990

2. Mass spectra of the picolinyl esters of isomeric mono and dienoic fatty acids;Christie;L ipids,1987

3. Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids;Duran;Clin Chim Acta,1985

4. Picolinyl esters as derivatives for the structural determination of long chain branched and unsaturated fatty acids;Harvey;Biomed Mass Spectrom,1982

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