Priorización de recursos sanitarios en contextos de escasez. Informe SESPAS 2022

por Ruiz-Hornillos, Javier, Albert, Marta, Real de Asua, Diego, Herrera Abián, María, de Miguel Beriain, Íñigo, Guillén-Navarro, Encarna
Publicado 2022

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

por Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga
Publicado 2013

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

por Pintos-Morell, Guillem, Blasco-Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia
Publicado 2018

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

por García-Martínez, Victoria-Eugenia, Galiana-Vallés, Ximo, Zomeño-Alcalá, Otilia, Rodríguez-López, Raquel, Llena, Carmen, Martínez-Romero, María del Carmen, Guillén-Navarro, Encarna
Publicado 2023

EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms

por Cassiman, David, Kauppinen, Raili, Monroy, Susana, Lee, Ming‐Jen, Bonkovsky, Herbert L., Thapar, Manish, Guillén‐Navarro, Encarna, Minder, Anna‐Elisabeth, Hale, Cecilia, Sweetser, Marianne T., Ivanova, Aneta
Publicado 2022

A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

por Zozaya, Néboa, Caballero, Teresa, González-Quevedo, Teresa, Setien, Pedro Gamboa, González, Mª Ángeles, Jódar, Ramón, Poveda-Andrés, José Luis, Guillén-Navarro, Encarna, Cuadrado, Agustín Rivero, Hidalgo-Vega, Álvaro
Publicado 2022

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

por Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna
Publicado 2023

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

por Zieg, Jakub, Krepelova, Anna, Baradaran-Heravi, Alireza, Levtchenko, Elena, Guillén-Navarro, Encarna, Balascakova, Miroslava, Sukova, Martina, Seeman, Tomas, Dusek, Jiri, Simankova, Nadezda, Rosik, Tomas, Skalova, Sylva, Lebl, Jan, Boerkoel, Cornelius F
Publicado 2011

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

por Esperón-Moldes, Uxia, Ginarte-Val, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Martín-Santiago, Ana, Vicente, Asunción, Jiménez-Gallo, David, Guillén-Navarro, Encarna, Sampol, Loreto Martorell, González-Enseñat, María Antonia, Vega, Ana
Publicado 2020

Bioethical Concerns During the COVID-19 Pandemic: What Did Healthcare Ethics Committees and Institutions State in Spain?

por Ruiz-Hornillos, Javier, Hernández Suárez, Pilar, Marín Martínez, Juana María, de Miguel Beriain, Íñigo, Nieves Vázquez, María Auxiliadora, Albert, Marta, Herrera Abián, María, Pacheco-Martínez, Pedro A., Trasmontes, Victoria, Guillén-Navarro, Encarna
Publicado 2021

The first European consensus on principles of management for achondroplasia

por Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus
Publicado 2021

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

por Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K., Norton, Mary E., Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence
Publicado 2023

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

por Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Publicado 2013

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

por Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Sousa, Sérgio B., Mohnike, Klaus
Publicado 2022

Optimising care and follow-up of adults with achondroplasia

por Fredwall, Svein, Allum, Yana, AlSayed, Moeenaldeen, Alves, Inês, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valerie, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B., Wright, Michael
Publicado 2022

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

por Carcavilla, Atilano, Cambra, Ana, Santomé, José L., Seidel, Verónica, Cruz, Jaime, Alonso, Milagros, Pozo, Jesús, Valenzuela, Irene, Guillén-Navarro, Encarna, Santos-Simarro, Fernando, González-Casado, Isabel, Rodríguez, Amparo, Medrano, Constancio, López-Siguero, Juan Pedro, Ezquieta, Begoña
Publicado 2023

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

por Araujo-Vilar, David, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina, Castro, Ana, Lage, Mary, Pazos, Marcos, Rial, José Manuel, Blasco, Javier, Guillén-Navarro, Encarna, Domingo-Jiménez, Rosario, del Campo, María Ruiz, González-Méndez, Blanca, Casanueva, Felipe F.
Publicado 2014

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

por Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2022

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

por Irving, Melita, AlSayed, Moeenaldeen, Arundel, Paul, Baujat, Geneviève, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fredwall, Svein, Guillen-Navarro, Encarna, Hoyer-Kuhn, Heike, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.
Publicado 2023

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

por Del Pozo-Valero, Marta, Corton, Marta, López-Rodríguez, Rosario, Mahillo-Fernández, Ignacio, Ruiz-Hornillos, Javier, Minguez, Pablo, Villaverde, Cristina, Pérez-Tomás, María Elena, Barreda-Sánchez, María, Mancebo, Esther, Paz-Artal, Estela, Guillén-Navarro, Encarna, Almoguera, Berta, Ayuso, Carmen
Publicado 2022