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Results: 1-16 |
Results: 16
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community
Authors: Prip-Buus, C Thuillier, L Abadi, N Prasad, C Dilling, L Klasing, J Demaugre, F Greenberg, CR Haworth, JC Droin, V Kadhom, N Gobin, S Kamoun, P Girard, J Bonnefont, JP
Citation: C. Prip-buus et al., Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community, MOL GEN MET, 73(1), 2001, pp. 46-54
Mental retardation in Down syndrome: a hydrogen sulfide hpothesis
Authors: Kamoun, P
Citation: P. Kamoun, Mental retardation in Down syndrome: a hydrogen sulfide hpothesis, MED HYPOTH, 57(3), 2001, pp. 389-392
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
Urinary sulfur compounds in Down syndrome
Authors: Belardinelli, MC Chabli, A Chadefaux-Vekemans, B Kamoun, P
Citation: Mc. Belardinelli et al., Urinary sulfur compounds in Down syndrome, CLIN CHEM, 47(8), 2001, pp. 1500-1501
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
Future Earth observation missions and environmental risks
Authors: Kamoun, P
Citation: P. Kamoun, Future Earth observation missions and environmental risks, SURV GEOPH, 21(2-3), 2000, pp. 307-315
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
Cystathionine beta-synthase mutations in homocystinuria
Authors: Kraus, JP Janosik, M Kozich, V Mandell, R Shih, V Sperandeo, MP Sebastio, G de Franchis, R Andria, G Kluijtmans, LAJ Blom, H Boers, GHJ Gordon, RB Kamoun, P Tsai, MY Kruger, WD Koch, HG Ohura, T Gaustadnes, M
Citation: Jp. Kraus et al., Cystathionine beta-synthase mutations in homocystinuria, HUM MUTAT, 13(5), 1999, pp. 362-375
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
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
Radar observations of three comets and detection of echoes from one: P/Grigg-Skjellerup
Authors: Kamoun, P Campbell, D Pettengill, G Shapiro, I
Citation: P. Kamoun et al., Radar observations of three comets and detection of echoes from one: P/Grigg-Skjellerup, PLANET SPAC, 47(1-2), 1999, pp. 23-28
Spatial and temporal expression of the cystathionine beta-synthase gene during early human development
Authors: Quere, I Paul, V Rouillac, C Janbon, C London, J Demaille, J Kamoun, P Dufier, JL Abitbol, M Chasse, JF
Citation: I. Quere et al., Spatial and temporal expression of the cystathionine beta-synthase gene during early human development, BIOC BIOP R, 254(1), 1999, pp. 127-137
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
Authors: Thuillier, L Chadefaux-Vekemans, B Bonnefont, JP Kara, A Aupetit, J Rochette, C Montalescot, G Couty, MC Kamoun, P Ankri, A
Citation: L. Thuillier et al., Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?, J INH MET D, 21(8), 1998, pp. 812-822
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria
Authors: Coude, M Aupetit, J Zabot, MT Kamoun, P Chadefaux-Vekemans, B
Citation: M. Coude et al., Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria, J INH MET D, 21(8), 1998, pp. 823-828
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