Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients von Garcia-Cazorla, A, De Lonlay, P, Nassogne, M.C, Rustin, P, Touati, G, Saudubray, J.M

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Biochemical and molecular investigations in respiratory chain deficiencies von Rustin, P., Chretien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J.M., Munnich, A.

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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy von Fékété, C.Nihoul, de Lonlay, P, Jaubert, F, Rahier, Jacques, Brunelle, F, Saudubray, J.M

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Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency von 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.

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Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient von Thuillier, L., Sevin, C., Demaugre, F., Brivet, M, Rabier, D., Droin, V., Aupetit, J., Abadi, N., Kamoun, P., Saudubray, J.M., Bonnefont, J.P.

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Secondary creatine deficiency in ornithine delta-aminotransferase deficiency von 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.

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Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism von Sbaï, D, Narcy, C, Thompson, GN, Mariotti, A, Poggi, F, Saudubray, JM, Bresson, JL

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Impaired mitochondrial pyruvate importation in a patient and a fetus at risk von Brivet, M, Garcia-Cazorla, A, Lyonnet, S, Dumez, Y, Nassogne, M.C, Slama, A, Boutron, A, Touati, G, Legrand, A, Saudubray, J.M

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MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME von Rotig, A, Colonna, M, Bonnefont, J.P, Blanche, S, Fischer, A, Saudubray, J.M, Munnich, A

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Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000 von Crétolle, C., Fékété, C.Nihoul, Jan, D., Nassogne, M.C., Saudubray, J.M., Brunelle, F., Rahier, J.

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Reference charts for respiratory chain activities in human tissues von Chretien, D., Rustin, P., Bourgeron, T., Rötig, A., Saudubray, J.M., Munnich, A.

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Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation von Wanders, R.J.A., Ijlst, L., Poggi, F., Bonnefont, J.P., Munnich, A., Brivet, M., Rabier, D., Saudubray, J.M.

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Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia von 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

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Clinical outcome of long-term management of patients with vitamin B 12-unresponsive methylmalonic acidemia von 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.

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Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation von Mitchell, Grant A., Labuda, Damian, Fontaine, Gisele, Saudubray, Jean Marie, Bonnefont, Jean Paul, Lyonnet, Stanislas, Brody, Lawrence C., Steel, Gary, Obie, Cassandra, Valle, David

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Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type lb von Vuillaumier-Barrot, S, Bizec, C. Le, Lonlay, P. de, Barnier, A, Mitchell, G, Pelletier, V, Prevost, C, Saudubray, J.M, Durand, G, Seta, N

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FATTY-ACID-RESPONSIVE ALOPECIA IN MULTIPLE CARBOXYLASE DEFICIENCY von Munnich, A., Saudubray, J.M., Coude, F.X., Charpentier, C., Saurat, J.H., Frezal, J.

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Human liver pathology in peroxisomal diseases: A review including novel data von Roels, F., Espeel, M., Poggi, F., Mandel, H., Van Maldergem, L., Saudubray, J.M.

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Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases von BODEMER, C., DE PROST, Y., BACHOLLET, B., POGGI, F., TEILLAC-HAMEL, D., FRAITAG, S., SAUDUBRAY, J.M.

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Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with a neonatal lactic acidemia von GEOFFROY, V, FOUQUE, F, BENELLI, C, POGGI, F, SAUDUBRAY, J. M, LISSENS, W, MEIRLEIR, L. D, MARSAC, C, LINDSAY, J. G, SANDERSON, S. J

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