The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study
Castelbón Fernández, Francisco Javier, Barreda Sánchez, María, Arranz Canales, Elena, Hernández Contreras, María Encarnación, Solares, Isabel, Morales Conejo, Montserrat, Muñoz Cuadrado, Álvaro, Casado Gómez, Araceli, Yébenes Cortés, María, Guillén Navarro, Encarna
Published in Medicina clinica (09.02.2024)
Published in Medicina clinica (09.02.2024)
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Journal Article
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
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Published in Scientific reports (20.06.2022)
Published in Scientific reports (20.06.2022)
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Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
Buendía-Martínez, Juan, Barreda-Sánchez, María, Rodríguez-Peña, Lidya, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Pérez-Tomás, María Elena, Gil-Ferrer, Remedios, Avilés-Plaza, Francisco, Glover-López, Guillermo, Carazo-Díaz, Carmen, Guillén-Navarro, Encarna
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Published in Orphanet journal of rare diseases (27.02.2021)
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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
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Published in Orphanet journal of rare diseases (03.12.2019)
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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
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
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases
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Published in Genes (01.06.2024)
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Published in Andrology (Oxford) (01.01.2023)
Published in Andrology (Oxford) (01.01.2023)
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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peña, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria Del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna
Published in Orphanet journal of rare diseases (26.02.2019)
Published in Orphanet journal of rare diseases (26.02.2019)
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Journal Article
The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study
Castelbón Fernández, Francisco Javier, Barreda Sánchez, María, Arranz Canales, Elena, Hernández Contreras, María Encarnación, Solares, Isabel, Morales Conejo, Montserrat, Muñoz Cuadrado, Álvaro, Casado Gómez, Araceli, Yébenes Cortés, María, Guillén Navarro, Encarna
Published in Medicina clínica (English ed.) (09.02.2024)
Published in Medicina clínica (English ed.) (09.02.2024)
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Journal Article
High penetrance of acute intermittent in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peéa, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna
Published in Orphanet journal of rare diseases (26.02.2019)
Published in Orphanet journal of rare diseases (26.02.2019)
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Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years
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
Published in GeroScience (01.02.2023)
Published in GeroScience (01.02.2023)
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