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Results: 1-17 |
Results: 17
Response of nitric oxide pathway to L-arginine infusion at the altitude of4,350 m
Authors: Schneider, JC Blazy, I Dechaux, M Rabier, D Mason, NP Richalet, JP
Citation: Jc. Schneider et al., Response of nitric oxide pathway to L-arginine infusion at the altitude of4,350 m, EUR RESP J, 18(2), 2001, pp. 286-292
5-oxoprolinuria: A cause of neonatal metabolic acidosis
Authors: Mitanchez, D Rabier, D Mokhtari, M Durrmeyer, X Menget, A Larsson, A Saudubray, JM
Citation: D. Mitanchez et al., 5-oxoprolinuria: A cause of neonatal metabolic acidosis, ACT PAEDIAT, 90(7), 2001, pp. 827-828
Serum citrulline and rejection in small bowel transplantation: A preliminary report
Authors: Pappas, PA Saudubray, JM Tzakis, AG Rabier, D Carreno, MR Gomez-Marin, O Huijing, F Gelman, B Levi, DM Nery, JR Kato, T Mittal, N Nishida, S Thompson, JF Ruiz, P
Citation: Pa. Pappas et al., Serum citrulline and rejection in small bowel transplantation: A preliminary report, TRANSPLANT, 72(7), 2001, pp. 1212-1216
Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients
Authors: De Lonlay, P Benelli, C Fouque, F Ganguly, A Aral, B Dionisi-Vici, C Touati, G Heinrichs, C Rabier, D Kamoun, P Robert, JJ Stanley, C Saudubray, JM
Citation: P. De Lonlay et al., Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients, PEDIAT RES, 50(3), 2001, pp. 353-357
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: anew inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase
Authors: Baumgartner, MR Hu, CAA Almashanu, S Steel, G Obie, C Aral, B Rabier, D Kamoun, P Saudubray, JM Valle, D
Citation: Mr. Baumgartner et al., Hyperammonemia with reduced ornithine, citrulline, arginine and proline: anew inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase, HUM MOL GEN, 9(19), 2000, pp. 2853-2858
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient
Authors: Thuillier, L Sevin, C Demaugre, F Brivet, M Rabier, D Droin, V Aupetit, J Abadi, N Kamoun, P Saudubray, JM Bonnefont, JP
Citation: L. Thuillier et al., Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient, NEUROMUSC D, 10(3), 2000, pp. 200-205
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
Authors: Saudubray, JM De Lonlay, P Touati, G Martin, D Nassogne, MC Castelnau, P Sevin, C Laborde, C Baussan, C Brivet, M Vassault, A Rabier, D Bonnefont, JP Kamoun, P
Citation: Jm. Saudubray et al., Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis, J INH MET D, 23(3), 2000, pp. 197-214
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
Authors: Touati, G Rusthoven, E Depondt, E Dorche, C Duran, M Heron, B Rabier, D Russo, M Saudubray, JM
Citation: G. Touati et al., Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement, J INH MET D, 23(1), 2000, pp. 45-53
Liver transplantation in urea cycle disorders
Authors: Saudubray, JM Touati, G Delonlay, P Jouvet, P Narcy, C Laurent, J Rabier, D Kamoun, P Jan, D Revillon, Y
Citation: Jm. Saudubray et al., Liver transplantation in urea cycle disorders, EUR J PED, 158, 1999, pp. S55-S59
Liver transplantation in propionic acidaemia
Authors: Saudubray, JM Touati, G Delonlay, P Jouvet, P Schlenzig, J Narcy, C Laurent, J Rabier, D Kamoun, P Jan, D Revillon, Y
Citation: Jm. Saudubray et al., Liver transplantation in propionic acidaemia, EUR J PED, 158, 1999, pp. S65-S69
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
Authors: Parfait, B de Lonlay, P von Kleist-Retzow, JC Cormier-Daire, V Chretien, D Rotig, A Rabier, D Saudubray, JM Rustin, P Munnich, A
Citation: B. Parfait et al., The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia, EUR J PED, 158(1), 1999, pp. 55-58
Facial anomalies in D-2-hydroxyglutaric aciduria
Authors: Amiel, J de Lonlay, P Francannet, C Picard, A Bruel, H Rabier, D Le Merrer, M Verhoeven, N Jakobs, C Lyonnet, S Munnich, A
Citation: J. Amiel et al., Facial anomalies in D-2-hydroxyglutaric aciduria, AM J MED G, 86(2), 1999, pp. 124-129
D-2-hydroxyglutaric aciduria: Further clinical delineation
Authors: van der Knaap, MS Jakobs, C Hoffmann, GF Duran, M Muntau, AC Schweitzer, S Kelley, RI Parrot-Roulaud, F Amiel, J De Lonlay, P Rabier, D Eeg-Olofsson, O
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Further clinical delineation, J INH MET D, 22(4), 1999, pp. 404-413
Defects in activation and transport of fatty acids
Authors: Brivet, M Boutron, A Slama, A Costa, C Thuillier, L Demaugre, F Rabier, D Saudubray, JM Bonnefont, JP
Citation: M. Brivet et al., Defects in activation and transport of fatty acids, J INH MET D, 22(4), 1999, pp. 428-441
Recognition and management of fatty acid oxidation defects: A series of 107 patients
Authors: Saudubray, JM Martin, D de Lonlay, P Touati, G Poggi-Travert, F Bonnet, D Jouvet, P Boutron, M Slama, A Vianey-Saban, C Bonnefont, JP Rabier, D Kamoun, P Brivet, M
Citation: Jm. Saudubray et al., Recognition and management of fatty acid oxidation defects: A series of 107 patients, J INH MET D, 22(4), 1999, pp. 488-502
Hair and skin disorders as signs of mitochondrial disease
Authors: Bodemer, C Rotig, A Rustin, P Cormier, V Niaudet, P Saudubray, JM Rabier, D Munnich, A de Prost, Y
Citation: C. Bodemer et al., Hair and skin disorders as signs of mitochondrial disease, PEDIATRICS, 103(2), 1999, pp. 428-433
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
Authors: Bonnet, D Martin, D de Lonlay, P Villain, E Jouvet, P Rabier, D Brivet, M Saudubray, JM
Citation: D. Bonnet et al., Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children, CIRCULATION, 100(22), 1999, pp. 2248-2253
Risultati: 1-17 |