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[Congenital disorders of glycosylation].
Durand G, Dupré T, Vuillaumier-Barrot S, Seta N. Durand G, et al. Among authors: dupre t. Ann Pharm Fr. 2003;61(5):330-9. Ann Pharm Fr. 2003. PMID: 13130291 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: dupre t. 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.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE. Sabry S, et al. Among authors: dupre t. Orphanet J Rare Dis. 2016 Jun 24;11(1):84. doi: 10.1186/s13023-016-0468-1. Orphanet J Rare Dis. 2016. PMID: 27343064 Free PMC article.
91 results