Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal α-methylacyl-CoA racemase deficiency

We identified a new peroxisomal disorder caused by a deficiency of the enzyme α-methylacyl-coenzyme A (CoA) racemase. Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic acid (DHCA and THCA), which are all substrate...

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Detalles Bibliográficos

Principais autores:	Sacha Ferdinandusse, Henk Overmars, Simone Denis, Hans R. Waterham, Ronald J.A. Wanders, Peter Vreken
Formato:	Artigo
Idioma:	Inglês
Publicado:	Elsevier 2001-01-01
Series:	Journal of Lipid Research
Assuntos:	bile acid intermediates peroxisomal β-oxidation stereochemistry
Acceso en liña:	http://www.sciencedirect.com/science/article/pii/S0022227520323452
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