AAAAAA
Results:
1-20
|
Results: 20
Authors:
Vuillaumier-Barrot, S
Le Bizec, C
Durand, G
Seta, N
Citation: S. Vuillaumier-barrot et al., The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic, J HUM GENET, 46(9), 2001, pp. 547-548
Authors:
Kayano, T
Seta, N
Hotta, T
Fujiwara, K
Terao, S
Citation: T. Kayano et al., Component ASPs business of NTT Software Corporation, NTT REVIEW, 13(4), 2001, pp. 37-41
Authors:
Drouin-Garraud, V
Belgrand, M
Grunewald, S
Seta, N
Dacher, JN
Henocq, A
Matthijs, G
Cormier-Daire, V
Frebourg, T
Saugier-Veber, P
Citation: V. Drouin-garraud et al., Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling, AM J MED G, 101(1), 2001, pp. 46-49
Authors:
Arfi, C
Seta, N
Fraisse, D
Revel, A
Escande, JP
Momas, I
Citation: C. Arfi et al., Dioxins in adipose tissue of non-occupationally exposed persons in France:correlation with individual food exposure, CHEMOSPHERE, 44(6), 2001, pp. 1347-1352
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:
Dupre, T
Cuer, M
Barrot, S
Barnier, A
Cormier-Daire, V
Munnich, A
Durand, G
Seta, N
Citation: T. Dupre et al., Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern, CLIN CHEM, 47(1), 2001, pp. 132-134
Authors:
Seta, N
Granfors, K
Sahly, H
Kuipers, JG
Song, YW
Baeten, D
Veys, EM
Maksymowych, W
Marker-Hermann, E
Gu, JR
Huang, F
Kirveskari, J
Yu, DTY
Citation: N. Seta et al., Expression of host defense scavenger receptors in spondylarthropathy, ARTH RHEUM, 44(4), 2001, pp. 931-939
Authors:
Matthijs, G
Schollen, E
Bjursell, C
Erlandson, A
Freeze, H
Imtiaz, F
Kjaergaard, S
Martinsson, T
Schwartz, M
Seta, N
Vuillaumier-Barrot, S
Westphal, V
Winchester, B
Citation: G. Matthijs et al., Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), HUM MUTAT, 16(5), 2000, pp. 386-394
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:
Seta, N
Arfi, C
Momas, I
Citation: N. Seta et al., General population exposure to dioxins, human ubiquitous pollutants, REV EPIDEM, 48(3), 2000, pp. 281-293
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:
Cormier-Daire, V
Amiel, J
Vuillaumier-Barrot, S
Tan, J
Durand, G
Munnich, A
Le Merrer, M
Seta, N
Citation: V. Cormier-daire et al., Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism, J MED GENET, 37(11), 2000, pp. 875-877
Authors:
Durand, G
Seta, N
Citation: G. Durand et N. Seta, Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring, CLIN CHEM, 46(6), 2000, pp. 795-805
Authors:
Cuer, M
Barnier, A
de la Salmoniere, P
Durand, G
Seta, N
Citation: M. Cuer et al., Fluorimetric measurement of plasma alpha-L-fucosidase activity with a centrifugal analyzer: Reference values in a healthy French adult population, CLIN CHEM, 46(4), 2000, pp. 562-564
Authors:
Seta, N
Citation: N. Seta, Carbohydrate-deficient glycoprotein syndrome and glycosylation of N-glycosyl proteins, ARCH PED, 6, 1999, pp. 206S-208S
Authors:
Dupre, T
Ogier-Denis, E
Moore, SEH
Cormier-Daire, V
Dehoux, M
Durand, G
Seta, N
Codogno, P
Citation: T. Dupre et al., Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients, BBA-MOL BAS, 1453(3), 1999, pp. 369-377
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:
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
Risultati:
1-20
|