Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.
暂无分享,去创建一个
E. Holme | O. Elpeleg | J. Saudubray | D. Branski | A. Gutman | A. Joseph | F. Demaugre | E. Christensen
[1] C. Stanley. Disorders of Fatty Acid Oxidation , 1995 .
[2] M. Baumgartner,et al. Inborn Metabolic Diseases , 1995, Springer Berlin Heidelberg.
[3] O. Elpeleg,et al. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. , 1992, The Journal of pediatrics.
[4] K. Bove,et al. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. , 1991, The New England journal of medicine.
[5] J. Saudubray,et al. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. , 1991, The Journal of clinical investigation.
[6] M. Sadeh,et al. Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. , 1990, Israel journal of medical sciences.
[7] Charles R.scriver,et al. The Metabolic basis of inherited disease , 1989 .
[8] A. Engel,et al. Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle. , 1985, European journal of biochemistry.
[9] F. Frerman,et al. Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. , 1985, Biochemical medicine.
[10] S. Dimauro,et al. Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria , 1973, Science.