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Results: 1-16 |
Results: 16
N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients
Authors: Acquaviva, C Benoist, JF Callebaut, I Guffon, N de Baulny, HO Touati, G Aydin, A Porquet, D Elion, J
Citation: C. Acquaviva et al., N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients, EUR J HUM G, 9(8), 2001, pp. 577-582
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene
Authors: Romero, NB De Lonlay, P Llense, S Leturcq, F Touati, G Urtizberea, JA Saudubray, JM Munnich, A Kaplan, JC Recan, D
Citation: Nb. Romero et al., Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene, NEUROMUSC D, 11(5), 2001, pp. 494-498
Hyperinsulinism
Authors: de Lonlay-Debeney, P Fournet, JC Touati, G Robert, JJ Junien, C Saudubray, JM
Citation: P. De Lonlay-debeney et al., Hyperinsulinism, ARCH PED, 8, 2001, pp. 298S-300S
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia
Authors: Menni, F de Lonlay, P Sevin, C Touati, G Peigne, C Barbier, V Nihoul-Fekete, C Saudubray, JM Robert, JJ
Citation: F. Menni et al., Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia, PEDIATRICS, 107(3), 2001, pp. 476-479
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
Dissection of the aorta complicated by aorto-pulmonary fistula
Authors: Leborgne, L Trojette, F Jarry, G Touati, G Otmani, A Hermida, JS Tribouilloy, C Remond, A Rey, JL Quiret, JC
Citation: L. Leborgne et al., Dissection of the aorta complicated by aorto-pulmonary fistula, ARCH MAL C, 94(7), 2001, pp. 743-746
A rare cause of cardiomyopathy in childhood: Propionic acidosis. Three case reports
Authors: Ou, P Touati, G Fraisse, A Sidi, D Kachaner, J Saudubray, JM Bonnet, D
Citation: P. Ou et al., A rare cause of cardiomyopathy in childhood: Propionic acidosis. Three case reports, ARCH MAL C, 94(5), 2001, pp. 531-533
Effects on bone metabolism of one year recombinant human growth hormone administration to children with juvenile chronic arthritis undergoing chronicsteroid therapy
Authors: Touati, G Ruiz, JC Porquet, D Kindermans, C Prieur, AM Czernichow, P
Citation: G. Touati et al., Effects on bone metabolism of one year recombinant human growth hormone administration to children with juvenile chronic arthritis undergoing chronicsteroid therapy, J RHEUMATOL, 27(5), 2000, pp. 1287-1293
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
Growth hormone treatment of short stature and metabolic dysfunction in juvenile chronic arthritis
Authors: Simon, D Touati, G Prieur, AM Ruiz, JC Czernichow, P
Citation: D. Simon et al., Growth hormone treatment of short stature and metabolic dysfunction in juvenile chronic arthritis, ACT PAEDIAT, 88, 1999, pp. 100-105
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
Clinical features of 52 neonates with hyperinsulinism
Authors: de Lonlay-Debeney, P Poggi-Travert, F Fournet, JC Sempoux, C Vici, CD Brunelle, F Touati, G Rahier, J Junien, C Nihoul-Fekete, C Robert, JJ Saudubray, JM
Citation: P. De Lonlay-debeney et al., Clinical features of 52 neonates with hyperinsulinism, N ENG J MED, 340(15), 1999, pp. 1169-1175
Persistent hypoglycaemia due to hyperinsulinism in newborns and infants.
Authors: de Lonlay-Debeney, P Fournet, JC Martin, D Poggi, F Vicci, CD Spada, M Touati, G Rahier, J Brunelle, F Junien, C Robert, JJ Nihoul-Fekete, C Saudubray, JM
Citation: P. De Lonlay-debeney et al., Persistent hypoglycaemia due to hyperinsulinism in newborns and infants., ARCH PED, 5(12), 1998, pp. 1347-1352
Risultati: 1-16 |