Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients
García-Cazorla, A, De Lonlay, P, Nassogne, M C, Rustin, P, Touati, G, Saudubray, J M
Published in Pediatrics (Evanston) (01.11.2005)
Published in Pediatrics (Evanston) (01.11.2005)
Get more information
Journal Article
Biochemical and molecular investigations in respiratory chain deficiencies
Rustin, P., Chretien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J.M., Munnich, A.
Published in Clinica chimica acta (01.07.1994)
Published in Clinica chimica acta (01.07.1994)
Get full text
Journal Article
The surgical management of congenital hyperinsulinemic hypoglycemia in infancy
Fékété, C.Nihoul, de Lonlay, P, Jaubert, F, Rahier, Jacques, Brunelle, F, Saudubray, J.M
Published in Journal of pediatric surgery (01.03.2004)
Published in Journal of pediatric surgery (01.03.2004)
Get full text
Journal Article
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
Thuillier, L., Sevin, C., Demaugre, F., Brivet, M, Rabier, D., Droin, V., Aupetit, J., Abadi, N., Kamoun, P., Saudubray, J.M., Bonnefont, J.P.
Published in Neuromuscular disorders : NMD (01.03.2000)
Published in Neuromuscular disorders : NMD (01.03.2000)
Get full text
Journal Article
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
Boutron, A., Acquaviva, C., Vianey-Saban, C., de Lonlay, P., de Baulny, H. Ogier, Guffon, N., Dobbelaere, D., Feillet, F., Labarthe, F., Lamireau, D., Cano, A., de Villemeur, T. Billette, Munnich, A., Saudubray, J.M., Rabier, D., Rigal, O., Brivet, M.
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
Get full text
Journal Article
Clinical approach to inherited metabolic disorders in neonates: an overview
Saudubray, J.M., Nassogne, M.C., de Lonlay, P., Touati, G.
Published in Seminars in neonatology (01.02.2002)
Published in Seminars in neonatology (01.02.2002)
Get full text
Journal Article
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
Valayannopoulos, V., Boddaert, N., Mention, K., Touati, G., Barbier, V., Chabli, A., Sedel, F., Kaplan, J., Dufier, J.L., Seidenwurm, David, Rabier, D., Saudubray, J.M., de Lonlay, P.
Published in Molecular genetics and metabolism (01.06.2009)
Published in Molecular genetics and metabolism (01.06.2009)
Get full text
Journal Article
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk
Brivet, M, Garcia-Cazorla, A, Lyonnet, S, Dumez, Y, Nassogne, M.C, Slama, A, Boutron, A, Touati, G, Legrand, A, Saudubray, J.M
Published in Molecular genetics and metabolism (01.03.2003)
Published in Molecular genetics and metabolism (01.03.2003)
Get full text
Journal Article
Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000
Crétolle, C., Fékété, C.Nihoul, Jan, D., Nassogne, M.C., Saudubray, J.M., Brunelle, F., Rahier, J.
Published in Journal of pediatric surgery (01.02.2002)
Published in Journal of pediatric surgery (01.02.2002)
Get full text
Journal Article
Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation
Wanders, R.J.A., Ijlst, L., Poggi, F., Bonnefont, J.P., Munnich, A., Brivet, M., Rabier, D., Saudubray, J.M.
Published in Biochemical and biophysical research communications (16.11.1992)
Published in Biochemical and biophysical research communications (16.11.1992)
Get full text
Journal Article
Clinical outcome of long-term management of patients with vitamin B 12-unresponsive methylmalonic acidemia
van der Meer, S.B., Poggi, F., Spada, M., Bonnefont, J.P., Ogier, H., Hubert, P., Depondt, E., Rapoport, D., Rabier, D., Charpentier, C., Parvy, P., Bardet, J., Kamoun, P., Saudubray, J.M.
Published in The Journal of pediatrics (01.12.1994)
Published in The Journal of pediatrics (01.12.1994)
Get full text
Journal Article
Reference charts for respiratory chain activities in human tissues
Chretien, D., Rustin, P., Bourgeron, T., Rötig, A., Saudubray, J.M., Munnich, A.
Published in Clinica chimica acta (01.07.1994)
Published in Clinica chimica acta (01.07.1994)
Get full text
Journal Article
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
VAN DER MEER, S. B, POGGI, F, PARVY, P, KAMOUN, P, SAUDUBRAY, J. M, SPADA, M, BONNEFONT, J. P, OGIER, H, HUBERT, P, DEPONDT, E, RAPOPORT, D, RABIER, D, CHARPENTIER, C
Published in The Journal of pediatrics (01.12.1994)
Published in The Journal of pediatrics (01.12.1994)
Get full text
Journal Article
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type lb
Vuillaumier-Barrot, S, Bizec, C. Le, Lonlay, P. de, Barnier, A, Mitchell, G, Pelletier, V, Prevost, C, Saudubray, J.M, Durand, G, Seta, N
Published in Journal of medical genetics (01.11.2002)
Get full text
Published in Journal of medical genetics (01.11.2002)
Journal Article
Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation
Mitchell, Grant A., Labuda, Damian, Fontaine, Gisele, Saudubray, Jean Marie, Bonnefont, Jean Paul, Lyonnet, Stanislas, Brody, Lawrence C., Steel, Gary, Obie, Cassandra, Valle, David
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1991)
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1991)
Get full text
Journal Article
Human liver pathology in peroxisomal diseases: A review including novel data
Roels, F., Espeel, M., Poggi, F., Mandel, H., Van Maldergem, L., Saudubray, J.M.
Published in Biochimie (1993)
Published in Biochimie (1993)
Get full text
Journal Article
Conference Proceeding