|
De la Morena-Barrio B, Borras N, Rodriguez-Alen A, de la Morena-Barrio ME, Garcia-Hernandez JL, Padilla J, Bravo-Perez C, Minano A, Rollon N, Corral J, Vidal F, Vicente V. Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods. Br J Haematol. 2019 Aug;186(4):e82-e86. doi: 10.1111/bjh.15913. Epub 2019 Apr 2. No abstract available. PubMed PMID: 30941754.
AÑO: 2019; IF: 5.518
|
30941754
|
Bravo-Perez C, Rodenas T, Esteban J, de la Morena-Barrio ME, Salloum-Asfar S, de la Morena-Barrio B, Minano A, Vicente V, Corral J. Gynaecological and obstetrical bleeding in Caucasian women with congenital factor XI deficiency: Results from a twenty-year, retrospective, observational study. Med Clin (Barc). 2019 Nov 29;153(10):373-379. doi: 10.1016/j.medcli.2019.01.029. Epub 2019 Mar 26. English, Spanish. PubMed PMID: 30926156.
AÑO: 2019; IF: 1.635
|
|
Martinez-Monseny AF, Bolasell M, Callejon-Poo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Perez-Cerda C, Perez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22. PubMed PMID: 30873657.
AÑO: 2019; IF: 11.274
|
|
Altassan R, Peanne 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, Grunewald S, Hernandez-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Ounap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Erratum In: J Inherit Metab Dis. 2019 May;42(3):577. PubMed PMID: 30740725.
AÑO: 2019; IF: 4.036
|
|
Baiges A, de la Morena-Barrio ME, Turon F, Minano A, Alberto Ferrusquia J, Magaz M, Reverter JC, Vicente V, Hernandez-Gea V, Corral J, Garcia-Pagan JC. Congenital antithrombin deficiency in patients with splanchnic vein thrombosis. Liver Int. 2020 May;40(5):1168-1177. doi: 10.1111/liv.14342. Epub 2020 Jan 16. PubMed PMID: 31885188.
AÑO: 2020; IF: 5.828
|