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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: dupre t. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. Among authors: dupre t. J Biol Chem. 2002 Jul 12;277(28):25815-22. doi: 10.1074/jbc.M203285200. Epub 2002 Apr 30. J Biol Chem. 2002. PMID: 11983712 Free article.
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. Among authors: dupre t. J Biol Chem. 2003 Mar 14;278(11):9962-71. doi: 10.1074/jbc.M211950200. Epub 2002 Dec 11. J Biol Chem. 2003. PMID: 12480927 Free article.
[Inherited disorders of protein glycosylation].
Dupré T, Lavieu G, Moore S, Seta N; Réseau de recherche sur les CDG I Inserm/AFM (4MR39F). Dupré T, et al. Med Sci (Paris). 2004 Mar;20(3):331-8. doi: 10.1051/medsci/2004203331. Med Sci (Paris). 2004. PMID: 15067579 Free article. Review. French.
A new insight into PMM2 mutations in the French population.
Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupré T, Durand G, Seta N. Le Bizec C, et al. Among authors: dupre t. Hum Mutat. 2005 May;25(5):504-5. doi: 10.1002/humu.9336. Hum Mutat. 2005. PMID: 15844218
PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: dupre t. Mol Genet Metab. 2006 Apr;87(4):337-40. doi: 10.1016/j.ymgme.2005.10.015. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16376131
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