Javier Pérez-Frías
University of Málaga
23 Papers
193 Citations
Javier Pérez-Frías is an academic researcher from University of Málaga. The author has contributed to research in topics: Cystic fibrosis & Medicine. The author has an hindex of 10, co-authored 20 publications.
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Papers
Montelukast added to budesonide in children with persistent asthma: A randomized, double-blind, crossover study
F. Estelle R. Simons,Jose R. Villa,Bee W. Lee,A. Teper,Brian Lyttle,Gustavo Aristizabal,Wolfgang Laessig,Antje Schuster,Javier Pérez-Frías,Bulent Enis Sekerel,Joris Menten,Jonathan A. Leff +11 more
TL;DR: In a multicenter, randomized, double-blind, crossover study, the authors compared the benefit of adding montelukast, 5 mg, or placebo once daily to budesonide, 200 μg, twice daily, in children with inhaled glucocorticoid-dependent persistent asthma.
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Paediatric patients with a tracheostomy: a multicentre epidemiological study
Estela Pérez-Ruiz,Pilar Caro,Javier Pérez-Frías,Maria Cols,Isabel Barrio,Alba Torrent,María Ángeles Fernández García,Oscar Asensio,María Dolores Pastor,Carmen Luna,Javier Torres,Borja Osona,Antonio Salcedo,Amparo Escribano,Isidoro Cortell,Mirella Gaboli,Alfredo Valenzuela,Elena Alvarez,Rosa Velasco,Enrique Vallines García +19 more
TL;DR: The aim of this study was to review the current profile of tracheostomised children in Spain and undertook a longitudinal, multicentre study over 2 yrs of all patients aged between 1 day and 18 yrs who had a trachostomy.
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Amino Acid Transport Defects in Human Inherited Metabolic Disorders.
TL;DR: The physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment, and the pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are briefly described.
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Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study
Amaral,Paula Pacheco,Sebastian Beck,Carlos M. Farinha,Deborah Penque,Paulo Nogueira,Celeste Barreto,B. Lopes,Teresa Casals,Dapena J,S. Gartner,C. Vásquez,Javier Pérez-Frías,Casilda Olveira,R. Cabanas,Xavier Estivill,Maria Tzetis,Emmanouel Kanavakis,Stavros Doudounakis,Thilo Dörk,Burkhard Tümmler,E. Girodon-Boulandet,Cécile Cazeneuve,Michel Goossens,Martine Blayau,C. Verlingue,I. Vieira,Claude Férec,Mireille Claustres,des Georges M,Christine Clavel,P. Birembaut,Dominique Hubert,Thierry Bienvenu,M. Adoun,Jean-Claude Chomel,De Boeck K,H. Cuppens,João Lavinha +38 more
TL;DR: The relationship between genotype, that is, the mutations in the CFTR gene, and the clinical phenotype of CF patients has been difficult to establish, in particular for lung disease.
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.
Xavier Estivill,Ortigosa L,Javier Pérez-Frías,Dapena J,Ferrer J,Peña L,R. Llevadot,Javier Giménez,Nunes +8 more
TL;DR: The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than Δ508, and suggest that other factors contribute to the wide spectrum of clinical differences observed in CF patients with the same CF transmembrane conductance regulator genotypes.
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