Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

Salvatore DiMauro, Paola M. Melis DiMauro · Science · 1973 · 478 citations

Mitochondrial Myopathy, Metabolic Syndrome, Energy Metabolism +13

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

Franco Taroni, Elisabetta Verderio, F. Dworzak et al. · Nature Genetics · 1993 · 200 citations

Mendelian Disorder, Common Mutation, Medicine +9

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Franco Taroni, Elisabetta Verderio, S Fiorucci et al. · Proceedings of the National Academy of Sciences · 1992 · 155 citations · Full text

Metabolic Syndrome, Molecular Characterization, Mendelian Disorder +15

Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II

George Hug, Kevin E. Bove, Shirley Soukup · New England Journal of Medicine · 1991 · 143 citations

Metabolic Syndrome, Mendelian Disorder, Metabolic Disorder +15

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

Gaetano Finocchiaro, Franco Taroni, Mariano Rocchi et al. · Proceedings of the National Academy of Sciences · 1991 · 126 citations · Full text

Genetics, Molecular Biology, Gene Characterization +24