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Primary carnitine deficiency in the Chinese

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出处 《Chinese Medical Journal》 SCIE CAS CSCD 2000年第4期88-92,共5页 中华医学杂志(英文版)
关键词 CARNITINE
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参考文献48

  • 1N. L. S. Tang,J. Hui,L. K. Law,K. F. To,J. P. N. Ruiter,L. IJlst,R. J. A. Wanders,C. S. Ho,T. F. Fok,P. M. P. Yuen,N. M. Hjelm.Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation[J]. Journal of Inherited Metabolic Disease . 1998 (4)
  • 2J. Sales Marques.Dilated cardiomyopathy caused by plasma membrane carnitine transport defect[J]. Journal of Inherited Metabolic Disease . 1998 (4)
  • 3B. Melegh,M. Pap,D. Molnár,G. Masszi,G. Kopcsányi.Carnitine administration ameliorates the changes in energy metabolism caused by short-term pivampicillin medication[J]. European Journal of Pediatrics . 1997 (10)
  • 4H. Nikaido,M. Horiuchi,N. Hashimoto,T. Saheki,J. Hayakawa.Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on Chromosome 11[J]. Mammalian Genome . 1995 (5)
  • 5I. Tein,S. DiMauro,Z. -W. Xie,D. C. Vivo.Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts[J]. Journal of Inherited Metabolic Disease . 1995 (3)
  • 6PonsR,deVivoDC.Primaryandsecondarycarnitinedeficiencysyndromes. JChildNeurol . 1995
  • 7EngelAG,ReboucheCJ,WilsonDM ,etal.Primarysystemiccarnitinedeficiency Ⅱ Renalhandlingofcarnitine. Neurology . 1981
  • 8Tein I,DiMauro S,Xie ZW,et al.Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts. Journal of Inherited Metabolic Disease . 1995
  • 9Holme E,Greter J,Jacobson CE,et al.Carnitine deficiency induced by pivampicillin and pivmecillinam therapy. The Lancet . 1989
  • 10Melegh B,Pap M,Molnar D,et al.Carnitine administration ameliorates the changes in energy metabolism caused by short-term pivampicillin medication. European Journal of Pediatrics . 1997

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