Literature DB >> 736528

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

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

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.

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Year:  1978        PMID： 736528     DOI： 10.1002/ana.410040513

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  8 in total

1.  Potential role of carnitine in patients with renal insufficiency.

Authors:  C Wanner; W H Hörl
Journal:  Klin Wochenschr       Date:  1986-07-01

2.  Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.

Authors:  J B Clark; D J Hayes; J A Morgan-Hughes; E Byrne
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Inhibition of carnitine palmitoyltransferase in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency by long- and short-chain acylcarnitine and acyl-coenzyme A.

Authors:  S Zierz; S Neumann-Schmidt; F Jerusalem
Journal:  Clin Investig       Date:  1993-10

4.  Myopathies due to enzyme deficiencies.

Authors:  F Cornelio; S Di Donato
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

5.  Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.

Authors:  G Meola; N Bresolin; M Rimoldi; M Velicogna; F Fortunato; G Scarlato
Journal:  J Neurol       Date:  1987-12       Impact factor: 4.849

6.  Myoglobinuria: presentation of personal cases and review of the literature.

Authors:  L Palmucci; A Bertolotto; C Doriguzzi; T Mongini; G Ardizzone
Journal:  Ital J Neurol Sci       Date:  1981-08

7.  Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

Authors:  J P Bonnefont; F Taroni; P Cavadini; C Cepanec; M Brivet; J M Saudubray; J P Leroux; F Demaugre
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

8.  Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Authors:  F Taroni; E Verderio; S Fiorucci; P Cavadini; G Finocchiaro; G Uziel; E Lamantea; C Gellera; S DiDonato
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-15       Impact factor: 11.205
  8 in total

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