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Results:
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Results: 20
Authors:
de Lonlay, P
Valnot, I
Barrientos, A
Gorbatyuk, M
Tzagoloff, A
Taanman, JW
Benayoun, E
Chretien, D
Kadhom, N
Lombes, A
de Baulny, HO
Niaudet, P
Munnich, M
Rustin, P
Rotig, A
Citation: P. De Lonlay et al., A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure, NAT GENET, 29(1), 2001, pp. 57-60
Authors:
Gauthier-Villars, M
Landrieu, P
Cormier-Daire, V
Jacquemin, E
Chretien, D
Rotig, A
Rustin, P
Munnich, A
de Lonlay, P
Citation: M. Gauthier-villars et al., Respiratory chain deficiency in Alpers syndrome, NEUROPEDIAT, 32(3), 2001, pp. 150-152
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
Authors:
de Lonlay, P
Seta, N
Barrot, S
Chabrol, B
Drouin, V
Gabriel, BM
Journel, H
Kretz, M
Laurent, J
Le Merrer, M
Leroy, A
Pedespan, D
Sarda, P
Villeneuve, N
Schmitz, J
van Schaftingen, E
Matthijs, G
Jaeken, J
Korner, C
Munnich, A
Saudubray, JM
Cormier-Daire, V
Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19
Authors:
Fournet, JC
Mayaud, C
de Lonlay, P
Gross-Morand, MS
Verkarre, V
Castanet, M
Devillers, M
Rahier, J
Brunelle, F
Robert, JJ
Nihoul-Fekete, C
Saudubray, JM
Junien, C
Citation: Jc. Fournet et al., Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism - Association with a reduction to hamozygosity of a mutation in ABCC8 or KCNJ11, AM J PATH, 158(6), 2001, pp. 2177-2184
Authors:
Aebi, M
Helenius, A
Schenk, B
Barone, R
Fiumara, A
Berger, EG
Hennet, T
Imbach, T
Stutz, A
Bjursell, C
Uller, A
Wahlstrom, JG
Briones, P
Cardo, E
Clayton, P
Winchester, B
Cormier-Daire, V
de Lonlay, P
Cuer, M
Dupre, T
Seta, N
de Koning, T
Dorland, L
de Loos, F
Kupers, L
Fabritz, L
Hasilik, M
Marquardt, T
Niehues, R
Freeze, H
Grunewald, S
Heykants, L
Jaeken, J
Matthijs, G
Schollen, E
Keir, G
Kjaergaard, S
Schwartz, M
Skovby, F
Klein, A
Roussel, P
Korner, C
Lubke, T
Thiel, C
von Figura, K
Koscielak, J
Krasnewich, D
Lehle, L
Peters, V
Raab, M
Saether, O
Schachter, H
Van Schaftingen, E
Verbert, A
Vilaseca, A
Wevers, R
Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Authors:
Dupre, T
Barnier, A
de Lonlay, P
Cormier-Daire, V
Durand, G
Codogno, P
Seta, N
Citation: T. Dupre et al., Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia, GLYCOBIOLOG, 10(12), 2000, pp. 1277-1281
Authors:
de Lonlay, P
Cormier-Daire, V
Vuillaumier-Barrot, S
Cuer, M
Durand, G
Munnich, A
Saudubray, JM
Seta, N
Citation: P. De Lonlay et al., "Carbohydrate-deficient glycoprotein" syndrome., ARCH PED, 7(2), 2000, pp. 173-184
Authors:
Nuoffer, JM
de Lonlay, P
Costa, C
Roe, CR
Chamoles, N
Brivet, M
Saudubray, JM
Citation: Jm. Nuoffer et al., Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency, EUR J PED, 159(1-2), 2000, pp. 82-85
Authors:
Vuillaumier-Barrot, S
Hetet, G
Barnier, A
Dupre, T
Cuer, M
de Lonlay, P
Cormier-Daire, V
Durand, G
Grandchamp, B
Seta, N
Citation: S. Vuillaumier-barrot et al., Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients, J MED GENET, 37(8), 2000, pp. 579-580
Authors:
Seta, N
Dupre, T
Cormier-Daire, V
de Lonlay, P
Moore, S
Durand, G
Codogno, P
Citation: N. Seta et al., Mannose metabolism and carbohydrate deficient glycoprotein syndrome type I, M S-MED SCI, 15(11), 1999, pp. 1202-1210
Authors:
Valnot, I
Kassis, J
Chretien, D
de Lonlay, P
Parfait, B
Munnich, A
Kachaner, J
Rustin, P
Rotig, A
Citation: I. Valnot et al., A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency, HUM GENET, 104(6), 1999, pp. 460-466
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
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
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
Authors:
de Lonlay, P
Cuer, M
Vuillaumier-Barrot, S
Beaune, G
Castelnau, P
Kretz, M
Durand, G
Saudubray, JM
Seta, N
Citation: P. De Lonlay et al., Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose, J PEDIAT, 135(3), 1999, pp. 379-383
Authors:
Picard, C
Couderc, S
Skojaei, T
Salomon, R
de Lonlay, P
Le Merrer, M
Munnich, A
Lyonnet, S
Amiel, J
Citation: C. Picard et al., Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement, CLIN GENET, 56(2), 1999, pp. 170-172
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
Authors:
Bonnet, D
Rustin, P
Rotig, A
de Lonlay, P
Viot, G
Munnich, A
Sidi, D
Citation: D. Bonnet et al., Metabolic and genetic investigations of cardiomyopathy in childhood., ARCH MAL C, 92(11), 1999, pp. 1509-1514
Authors:
Fournet, JC
Verkarre, V
de Lonlay, P
Rahier, J
Brunelle, F
Robert, JJ
Nihoul-Fekete, C
Saudubray, JM
Junien, C
Citation: Jc. Fournet et al., Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia, ANN ENDOCR, 59(6), 1998, pp. 485-491
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