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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: borgel d. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
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: borgel d. 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.
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D. Kauskot A, et al. Among authors: borgel d. Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16. Haematologica. 2018. PMID: 30115659 Free PMC article. No abstract available.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Witters P, et al. Among authors: borgel d. Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293989 Free article.
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D. Pascreau T, et al. Among authors: borgel d. J Thromb Haemost. 2019 Nov;17(11):1798-1807. doi: 10.1111/jth.14559. Epub 2019 Jul 28. J Thromb Haemost. 2019. PMID: 31271700 Free article.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: borgel d. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.
López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J, Corral J. López-Gálvez R, et al. Among authors: borgel d. Orphanet J Rare Dis. 2020 Oct 9;15(1):280. doi: 10.1186/s13023-020-01564-9. Orphanet J Rare Dis. 2020. PMID: 33036649 Free PMC article.
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier-Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P. Girard M, et al. Among authors: borgel d. J Inherit Metab Dis. 2020 Nov;43(6):1360-1369. doi: 10.1002/jimd.12289. Epub 2020 Aug 9. J Inherit Metab Dis. 2020. PMID: 33098580
117 results