Saudubray, Jean-Marie

Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy

Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M. (1990) · Journal of Clinical Investigation

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 461

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Menni, F., de Lonlay, P., Sevin, C., Touati, G., Peigné, C., Barbier, V., Nihoul-Fékété, C., Saudubray, J.-M., & Robert, J.-J. (2001) · PEDIATRICS

Pancreatic function and diabetesMetabolism and Genetic Disorders

Cited by 347

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states

Bonnefont, J. P., Specola, N. B., Vassault, A., Lombes, A., Ogier, H., de Klerk, J. B. C., Munnich, A., Coude, M., Paturneau-Jouas, M., & Saudubray, J. M. (1990) · European Journal of Pediatrics

Metabolism and Genetic DisordersDiet and metabolism studies

Cited by 168

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

Lamari, F., Mochel, F., Sedel, F., & Saudubray, J. M. (2013) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 104

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy

Giurgea, I., Ulinski, T., Touati, G., Sempoux, C., Mochel, F., Brunelle, F., Saudubray, J.-M., Fekete, C., & de Lonlay, P. (2005) · Pediatrics

Child Abuse and Related TraumaPancreatic function and diabetes

Cited by 76

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 58

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

Poll‐The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., & Saudubray, J. M. (1991) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 32