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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: corral j. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.
Martínez-Martínez I, Navarro-Fernández J, Aguila S, Miñano A, Bohdan N, De La Morena-Barrio ME, Ordóñez A, Martínez C, Vicente V, Corral J. Martínez-Martínez I, et al. Among authors: corral j. Mol Med. 2012 Jul 18;18(1):762-70. doi: 10.2119/molmed.2012.00017. Mol Med. 2012. PMID: 22481271 Free PMC article.
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.
Martínez-Martínez I, Navarro-Fernández J, Østergaard A, Gutiérrez-Gallego R, Padilla J, Bohdan N, Miñano A, Pascual C, Martínez C, de la Morena-Barrio ME, Aguila S, Pedersen S, Kristensen SR, Vicente V, Corral J. Martínez-Martínez I, et al. Among authors: corral j. Blood. 2012 Jul 26;120(4):900-4. doi: 10.1182/blood-2012-01-406207. Epub 2012 Apr 12. Blood. 2012. PMID: 22498748 Free article.
Protective role of antithrombin in mouse models of liver injury.
Guerrero JA, Teruel R, Martínez C, Arcas I, Martínez-Martínez I, de la Morena-Barrio ME, Vicente V, Corral J. Guerrero JA, et al. Among authors: corral j. J Hepatol. 2012 Nov;57(5):980-6. doi: 10.1016/j.jhep.2012.06.023. Epub 2012 Jun 26. J Hepatol. 2012. PMID: 22749941
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. Among authors: corral j. 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. Among authors: corral j. 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
720 results