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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.
Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlström JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupré T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al. Aebi M, et al. Among authors: seta n. Glycoconj J. 1999 Nov;16(11):669-71. doi: 10.1023/a:1017249723165. Glycoconj J. 1999. PMID: 11003549 No abstract available.
[Carbohydrate-deficient blood glycoprotein syndrome].
de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: seta n. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. French.
[Congenital Disorders of Glycosylation (CDG)].
de Lonlay P, Valayannopoulos V, Dupré T, Vuillaumier-Barrot S, Seta N. de Lonlay P, et al. Among authors: seta n. Arch Pediatr. 2008 Jun;15(5):602-5. doi: 10.1016/S0929-693X(08)71847-5. Arch Pediatr. 2008. PMID: 18582686 French. No abstract available.
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
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. Matthijs G, et al. Among authors: seta n. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895
179 results