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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. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
de la Morena-Barrio ME, Hernández-Caselles T, Corral J, García-López R, Martínez-Martínez I, Pérez-Dueñas B, Altisent C, Sevivas T, Kristensen SR, Guillén-Navarro E, Miñano A, Vicente V, Jaeken J, Lozano ML. de la Morena-Barrio ME, et al. Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170. Orphanet J Rare Dis. 2013. PMID: 24139637 Free PMC article.
Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J. de la Morena-Barrio ME, et al. Thromb Res. 2014 Mar;133(3):412-7. doi: 10.1016/j.thromres.2013.12.024. Epub 2013 Dec 21. Thromb Res. 2014. PMID: 24388574
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V. de la Morena-Barrio ME, et al. J Thromb Haemost. 2016 Aug;14(8):1549-60. doi: 10.1111/jth.13372. Epub 2016 Jun 29. J Thromb Haemost. 2016. PMID: 27214821 Free article.
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