Myopathies due to carnitine or carnitine-palmitoiltransferase deficiencies

[1]  M. Rocchi,et al.  cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[2]  G. Finocchiaro,et al.  Purification, characterization and partial amino acid sequences of carnitine palmitoyl‐transferase from human liver , 1990, FEBS letters.

[3]  S. Dimauro,et al.  Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy , 1990, Pediatric Research.

[4]  G. Finocchiaro,et al.  Purification and properties of carnitine acetyltransferase from human liver. , 1990, European journal of biochemistry.

[5]  J. Saudubray,et al.  Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects , 1990, Pediatric Research.

[6]  J. McGarry,et al.  Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase. , 1989, Diabetes/metabolism reviews.

[7]  S. Donato,et al.  Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities , 1988, Pediatric Research.

[8]  G. Woldegiorgis,et al.  Carnitine palmitoyltransferase: separation of enzyme activity and malonyl-CoA binding in rat liver mitochondria. , 1986, Biochimica et biophysica acta.

[9]  P. Rinaldo,et al.  Systemic carnitine deficiency due to lack of electron transfer flavoprotein , 1986, Neurology.

[10]  J. Bremer Carnitine--metabolism and functions. , 1983, Physiological reviews.

[11]  S. Dimauro,et al.  Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria , 1973, Science.

[12]  C. Stanley New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. , 1987, Advances in pediatrics.

[13]  E. Legenstein,et al.  Carnitine, Metabolism and Function , 1987 .