Ann Neurol. 1978 Nov;4(5):465-7.

Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.

DiDonato S, Cornelio F, Pacini L, Peluchetti D, Rimoldi M, Spreafico S.

Abstract

A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.

PMID:: 736528; [PubMed - indexed for MEDLINE]

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Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets. [J Neurol. 1987]
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Meola G, Bresolin N, Rimoldi M, Velicogna M, Fortunato F, Scarlato G. J Neurol. 1987 Dec; 235(2):74-9.
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Cited by 2 PubMed Central articles

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. [Am J Hum Genet. 1996]
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Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. Proc Natl Acad Sci U S A. 1992 Sep 15; 89(18):8429-33.

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