J. M. Saudubray

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

Metabolic Disorder, Sudden Death, Pathology +16

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

Jean‐Paul Bonnefont, Franco Taroni, Patrizia Cavadini et al. · PubMed · 1996 · 86 citations

Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

S.K. Wadman, M. Durán, F. A. Beemer et al. · Journal of Inherited Metabolic Disease · 1983 · 76 citations

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

Guy Touati, Esther Rusthoven, Eliane Depondt et al. · Journal of Inherited Metabolic Disease · 2000 · 72 citations

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases

Christine Bodemer, Y. De Prost, Bertrand Bachollet et al. · British Journal of Dermatology · 1994 · 56 citations