International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 113 | 2019 |
The genetics of antithrombin J Corral, ME de la Morena-Barrio, V Vicente Thrombosis research 169, 23-29, 2018 | 110 | 2018 |
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) AF Martínez‐Monseny, M Bolasell, L Callejón‐Póo, D Cuadras, ... Annals of neurology 85 (5), 740-751, 2019 | 62 | 2019 |
Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content N Revilla, J Corral, A Miñano, ME Mingot-Castellano, RM Campos, ... Platelets 30 (6), 743-751, 2019 | 59 | 2019 |
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism I Martínez-Martínez, J Navarro-Fernández, A Østergaard, ... Blood, The Journal of the American Society of Hematology 120 (4), 900-904, 2012 | 52 | 2012 |
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect ME de la Morena‐Barrio, I Martínez‐Martínez, C de Cos, E Wypasek, ... Journal of Thrombosis and Haemostasis 14 (8), 1549-1560, 2016 | 51 | 2016 |
Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients ME de la Morena-Barrio, C Bravo-Perez, A Miñano, B de la Morena-Barrio, ... Scientific reports 11 (1), 7792, 2021 | 40 | 2021 |
Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency ME de la Morena-Barrio, AI Antón, I Martínez-Martínez, J Padilla, ... Thrombosis and haemostasis 107 (03), 430-437, 2012 | 36 | 2012 |
Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease in Burkina Faso. J Simpore, D Ilboudo, K Damintoti, L Sawadogo, E Maria, S Binet, ... Pakistan Journal of Biological Sciences: PJBS 10 (3), 409-414, 2007 | 33 | 2007 |
Antithrombin Dublin (p. Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency J Navarro-Fernández, ME de la Morena-Barrio, J Padilla, A Minano, ... Thrombosis and haemostasis 116 (07), 146-154, 2016 | 32 | 2016 |
Incidence and features of thrombosis in children with inherited antithrombin deficiency B de la Morena-Barrio, C Orlando, ME de la Morena-Barrio, V Vicente, ... Haematologica 104 (12), 2512, 2019 | 27 | 2019 |
High levels of latent antithrombin in plasma from patients with antithrombin deficiency M de la Morena-Barrio, E Sandoval, P Llamas, E Wypasek, M Toderici, ... Thrombosis and haemostasis 117 (05), 880-888, 2017 | 27 | 2017 |
Subcellular localization of antizyme inhibitor 2 in mammalian cells: Influence of intrinsic sequences and interaction with antizymes AJ López‐Contreras, BL Sánchez‐Laorden, B Ramos‐Molina, ... Journal of cellular biochemistry 107 (4), 732-740, 2009 | 27 | 2009 |
A pilot study on the impact of congenital thrombophilia in COVID‐19 ME de la Morena‐Barrio, C Bravo‐Pérez, B de la Morena‐Barrio, ... European Journal of Clinical Investigation 51 (5), e13546, 2021 | 26 | 2021 |
Scalable production of tissue-like vascularized liver organoids from human PSCs SP Harrison, R Siller, Y Tanaka, ME Chollet, ME de la Morena-Barrio, ... Experimental & Molecular Medicine 55 (9), 2005-2024, 2023 | 23 | 2023 |
High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study J Esteban, ME de la Morena‐Barrio, S Salloum‐Asfar, J Padilla, A Miñano, ... Haemophilia 23 (6), e488-e496, 2017 | 23 | 2017 |
MPI-CDG with transient hypoglycosylation and antithrombin deficiency ME de la Morena-Barrio, E Wypasek, D Owczarek, A Miñano, V Vicente, ... Haematologica 104 (2), e79, 2019 | 22 | 2019 |
Expanding the genetic spectrum of TUBB1-related thrombocytopenia V Palma-Barqueros, L Bury, S Kunishima, ML Lozano, A Rodríguez-Alen, ... Blood advances 5 (24), 5453-5467, 2021 | 21 | 2021 |
Protective role of antithrombin in mouse models of liver injury JA Guerrero, R Teruel, C Martínez, I Arcas, I Martínez-Martínez, ... Journal of hepatology 57 (5), 980-986, 2012 | 21 | 2012 |
A human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infection P Papareddy, M Rossnagel, F Doreen Hollwedel, G Kilic, S Veerla, ... Nature microbiology 4 (12), 2442-2455, 2019 | 20 | 2019 |