J. M. Saudubray

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

J Scotto, Michelle Hadchouel, Marie‐Hélène Odièvre et al. · Journal of Inherited Metabolic Disease · 1982 · 178 citations

Medicine, Pathobiology, Pediatrics +12

Infantile Refsum disease: an inherited peroxisomal disorder

Bwee Tien Poll‐The, J. M. Saudubray, H. Ogier et al. · European Journal of Pediatrics · 1987 · 132 citations

Life Sciences, Genetics, Pediatrics +9

Liver transplantation in urea cycle disorders

J. M. Saudubray, Guy Touati, Pascale Delonlay et al. · European Journal of Pediatrics · 1999 · 87 citations

Medicine, Internal Medicine, Surgery +12

Liver transplantation in mitochondrial respiratory chain disorders

Étienne Sokal, Ronald J. Sokol, Florence Lacaille et al. · European Journal of Pediatrics · 1999 · 81 citations

Life Sciences, Biochemistry, Internal Medicine +14