Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Deficiency of carnitine palmitoyltransferase II (CPTase II; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC 2.3.1.21) is a clinically heterogeneous autosomal recessive disorder of energy metabolism. We studied the molecular basis of CPTase II deficiency in an early-onset patient presenting with...

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Autors principals: Taroni, F, Verderio, E, Fiorucci, S, Cavadini, P, Finocchiaro, G, Uziel, G, Lamantea, E, Gellera, C, DiDonato, S
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC49933/
https://ncbi.nlm.nih.gov/pubmed/1528846
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