Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

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 · 202 citations

Life Sciences, Genetics, Molecular Genetics +12

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

France Demaugre, Jean‐Paul Bonnefont, Marco Colonna et al. · Journal of Clinical Investigation · 1991 · 200 citations · Full text

Life Sciences, Biochemistry, Pathology +15

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency

P.F. Bougneres, Jean-M. Saudubray, C. Marsac et al. · The Journal of Pediatrics · 1981 · 179 citations

Life Sciences, Biochemistry, Endocrinology +10

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

Life Sciences, Genetics, Molecular Genetics +16

Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II

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

Life Sciences, Genetics, Pediatrics +14