Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.

OBJECTIVES: Carnitine palmitoyltransferase (CPT) deficiency is one of the most common defects of mitochondrial fatty acid oxidation. Two different enzymes (CPT-I and CPT-II) are involved. Due to problems in measuring enzyme activity, relatively little is known about the substrate specificity of each...

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Main Authors: Schaefer, J, Jackson, S, Taroni, F, Swift, P, Turnbull, D M
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC486729/
https://ncbi.nlm.nih.gov/pubmed/9048718
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