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16 p, 3.6 MB |
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia
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Alonso-Peña, Marta (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Espinosa-Escudero, Ricardo (Universidad de Salamanca) ;
Herraez, Elisa (Instituto de Salud Carlos III) ;
Briz, Oscar (Instituto de Salud Carlos III) ;
Cagigal, Maria Luisa (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
González Santiago, Jesús M (Hospital Universitario de Salamanca) ;
Ortega-Alonso, Aida (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Fernandez-Rodriguez, Conrado (Universidad Rey Juan Carlos University) ;
Bujanda, Luis (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Calvo Sanchez, Marta (Hospital General de Segovia) ;
D'Avola, Delia (Clínica Universidad de Navarra) ;
Londoño, Maria-Carlota ;
Diago, Moises (Hospital General Universitario de Valencia) ;
Fernandez-Checa, Jose C. (University of Southern California) ;
Garcia-Ruiz, Carmen (University of Southern California) ;
Andrade, Raúl J (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Lammert, Frank (Hannover Medical School) ;
Prieto, Jesus (Clínica Universidad de Navarra) ;
Crespo García, Javier (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Juamperez, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Díaz-González, Álvaro (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Monte, Maria J. (Instituto de Salud Carlos III) ;
Marin, Jose J. G. (Instituto de Salud Carlos III) ;
Univesitat Autònoma de Barcelona
A variant (p. Arg225Trp) of peroxisomal acyl-CoA oxidase 2 (ACOX2), involved in bile acid (BA) side-chain shortening, has been associated with unexplained persistent hypertransaminasemia and accumulation of C27-BAs, mainly 3α,7α,12α-trihydroxy-5β-cholestanoic acid (THCA). [...]
2022 -  10.1002/hep.32517
Hepatology, Vol. 76 (july 2022) , p. 1259-1274
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5 p, 801.1 KB |
Worse outcome and distinct mutational pattern in follicular lymphoma with anti-HBc positivity
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Fernandez-Rodríguez, Concepción (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Rodriguez-Sevilla, Juan Jose (Hospital del Mar (Barcelona, Catalunya)) ;
Fernández Ibarrondo, Lierni (Universitat Pompeu Fabra) ;
Sánchez-González, Blanca (Hospital del Mar (Barcelona, Catalunya)) ;
Gibert, Joan (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Bento, Leyre (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Garcia, Juan Fernando (MD Anderson Cancer Center) ;
Sancho, Juan-Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Díez-Feijoo, Ramón (Hospital del Mar (Barcelona, Catalunya)) ;
Camacho, Laura (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Garcia-Retortillo, M (Hospital del Mar (Barcelona, Catalunya)) ;
Gimeno, Eva (Hospital del Mar (Barcelona, Catalunya)) ;
Colomo, Luis (Universitat Pompeu Fabra) ;
Gutiérrez, Antonio (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Bellosillo Paricio, Beatriz (Universitat Pompeu Fabra) ;
Salar, Antonio (Hospital del Mar (Barcelona, Catalunya))
Epidemiological studies have demonstrated the association between hepatitis B virus (HBV) infection and B-cell non-Hodgkin lymphoma (NHL), mainly for diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL). [...]
2022 - 10.1182/bloodadvances.2021005316
Blood advances, Vol. 6 Núm. 1 (november 2022) , p. 82-86
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11 p, 1.0 MB |
Definite and indeterminate nonalcoholic steatohepatitis share similar clinical features and prognosis : A longitudinal study of 1893 biopsy-proven nonalcoholic fatty liver disease subjects
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Ampuero, Javier (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Aller, Rocio (Hospital Clínico Universitario de Valladolid) ;
Gallego-Durán, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Crespo García, Javier (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Abad, Javier (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
González-Rodríguez, Águeda (Instituto de Investigación Hospital Universitario de la Princesa) ;
Gómez-Camarero, Judith (Hospital Universitario de Burgos) ;
Caballería, Joan (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Lo Iacono, Oreste (Hospital Universitario Tajo) ;
Ibañez, Luis (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ;
García-Samaniego, Javier (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Martín-Mateos, Rosa (Hospital Universitario Ramón y Cajal (Madrid)) ;
Francés, Rubén (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Fernández-Rodríguez, Conrado (Hospital Universitario Fundación Alcorcón) ;
Diago, Moises (Hospital General Universitario de Valencia) ;
Soriano, German (Institut d'Investigació Biomèdica Sant Pau) ;
Andrade, Raúl J. (Instituto de Investigación Biomédica de Málaga) ;
Latorre, Raquel (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ;
Jorquera, Francisco (Servicio de Aparato Digestivo. Complejo Asistencial Universitario de León. IBIOMED) ;
Morillas Cunill, Rosa Ma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Escudero, Desam (Hospital Clínic Universitari (València)) ;
Estévez, Pamela (Complexo Hospitalario Universitario de Vigo) ;
Hernández-Guerra, Manuel (Hospital Universitario de Canarias (La Laguna)) ;
Augustin Recio, Salvador (Hospital Universitari Vall d'Hebron) ;
Pareja-Megia, María Jesús (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Banales, Jesus (Biocruces Bizkaia) ;
Aspichueta, Patricia (Biocruces Bizkaia) ;
Benlloch, Salvador (Hospital Universitari i Politècnic La Fe (València)) ;
Rosales, José Miguel (Agencia Sanitaria Costa del Sol) ;
Salmerón, Javier (Hospital Universitario San Cecilio (Granada)) ;
Turnes, Juan (Complejo Hospitalario Universitario de Pontevedra) ;
Romero-Gómez, Manuel (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas)
Background and Aim: Histological score systems may not fully capture the essential nonalcoholic steatohepatitis (NASH) features, which is one of the leading causes of screening failure in clinical trials. [...]
2021 - 10.1111/liv.14898
Liver International, Vol. 41 Núm. 9 (september 2021) , p. 2076-2086
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145 p, 12.3 MB |
Aplicación de la secuenciación masiva en el diagnóstico y manejo del linfoma folicular
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Fernández Rodríguez, Mª Concepción ;
Salar Silvestre, Antonio, dir. ;
Bellosillo Paricio, Beatriz, dir. ;
Bassols Teixidó, Anna Maria, dir.
El limfoma fol·licular (LF) és el segon linfoma no-Hodgkin més freqüent, amb característiques clíniques i moleculars molt heterogènies. Encara que es caracteritza per un curs clínic en general indolent, al menys un 20-30% dels pacients no responen o bé progressen dintre dels primers 2 anys de tractament, presentanty un especial mal pronòstic. [...]
El linfoma folicular (LF) es el segundo linfoma no-Hodgkin más frecuente, con características clínicas y moleculares muy heterogéneas. Aunque se caracteriza por un curso clínico en general indolente, al menos un 20-30% de los pacientes no responden o bien progresan en los primeros 2 años de tratamiento, presentando un especial mal pronóstico. [...]
Follicular lymphoma (LF) is the second most common non-Hodgkin's lymphoma, with very heterogeneous clinical and molecular features. Although it is characterized by a generally indolent clinical course, at least 20-30% of patients do not respond or progress during the first 2 years after treatment, presenting a special poor prognosis. [...]
2021
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49 p, 4.3 MB |
Tracking five millennia of horse management with extensive ancient genome time series
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Fages, Antoine (Université Paul Sabatier. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse) ;
Hanghøj, Kristian (Université Paul Sabatier. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse) ;
Khan, Naveed (Abdul Wali Khan University. Department of Biotechnology) ;
Gaunitz, Charleen (Københavns Universitet. Sektion for Geogenetik) ;
Seguin-Orlando, Andaine (Université Paul Sabatier. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse) ;
Leonardi, Michela (Københavns Universitet. Sektion for Geogenetik) ;
McCrory Constantz, Christian (Københavns Universitet. Sektion for Geogenetik) ;
Gamba, Cristina (Københavns Universitet. Sektion for Geogenetik) ;
Al-Rasheid, Khaled A. S. (King Saud University. Zoology Department) ;
Albizuri, Silvia (Universitat de Barcelona. Seminari d'Estudis i Recerques Prehistòriques) ;
Alfarhan, Ahmed H. (King Saud University. Zoology Department) ;
Allentoft, Morten (Københavns Universitet. Sektion for Geogenetik) ;
Alquraishi, Saleh (King Saud University. Zoology Department) ;
Anthony, David (Hartwick College. Anthropology Department) ;
Baimukhanov, Nurbol (Shejire DNA project) ;
Barrett, James H. (University of Cambridge. Department of Archaeology) ;
Bayarsaikhan, Jamsranjav (National Museum of Mongolia) ;
Benecke, Norbert (Deutsches Archäologisches Institut) ;
Bernáldez-Sánchez, Eloísa (Instituto Andaluz del Patrimonio Historico. Laboratorio de Paleontologia y Paleobiologia) ;
Berrocal-Rangel, Luis (Universidad Autónoma de Madrid. Departamento de Prehistoria y Arqueología) ;
Biglari, Fereidoun (National Museum of Iran. Department of Paleolithic) ;
Boessenkool, Sanne (Universitetet i Oslo. Senter for økologisk og evolusjonær syntese) ;
Boldgiv, Bazartseren (National University of Mongolia. Ecology Group) ;
Brem, Gottfried (Vetmeduni Vienna. Institut für Tierzucht und Genetik) ;
Brown, Dorcas (Hartwick College. Anthropology Department) ;
Burger, Joachim (Johannes Gutenberg-Universität Mainz. Palaeogenetics Group) ;
Crubézy, Eric (Université de Toulouse. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse) ;
Daugnora, Linas (Klaipėda university. Osteological material research laboratory) ;
Davoudi, Hossein (National Museum of Iran. Department of Osteology) ;
Damgaard, Peter de Barros (Københavns Universitet. Sektion for Geogenetik) ;
Chorro y de Villa-Ceballos, María de los Ángeles de (Centro de Biología Molecular Severo Ochoa) ;
Deschler-Erb, Sabine (Integrative prähistorische und naturwissenschaftliche Archäologie) ;
Detry, Cleia (UNIARQ) ;
Dill, Nadine (Integrative prähistorische und naturwissenschaftliche Archäologie) ;
Oom, Maria do Mar (Universidade de Lisboa. Centre for Ecology, Evolution and Environmental Changes) ;
Dohr, Anna (Institut für Ur- und Frühgeschichte und Archäologie der römischen Provinzen) ;
Ellingvåg, Sturla (Explico Foundation) ;
Erdenebaatar, Diimaajav (Ulaanbaatar State University. Department of Archaeology) ;
Fathi, Homa (National Museum of Iran. Department of Osteology) ;
Felkel, Sabine (Vetmeduni Vienna. Institut für Tierzucht und Genetik) ;
Fernández-Rodríguez, Carlos (Universidad de León. Departamento de Historia) ;
García-Viñas, Esteban (Universidad Pablo de Olavide. Departamento de Sistemas Físicos, Químicos y Naturales) ;
Germonpré, Mietje (Muséum des sciences naturelles de Belgique) ;
Granado, José D. (Integrative prähistorische und naturwissenschaftliche Archäologie) ;
Hallsson, Jón H. (The Agricultural University of Iceland. Faculty of Agricultural and Environmental Sciences) ;
Hemmer, Helmut (Johannes Gutenberg-Universität Mainz. Institut für Organismische und Molekulare Evolutionsbiologie) ;
Hofreiter, Michael (Universität Potsdam. Instituts für Biochemie und Biologie) ;
Kasparov, Aleksei (Russian Academy of Sciences. Institute for the History of Material Culture) ;
Khasanov, Mutalib (Archaeology Institute of Samarkand) ;
Khazaeli, Roya (University of Tehran. Archaezoology section) ;
Kosintsev, Pavel (Urals Branch of the Russian Academy of Sciences. Institute of Plant and Animal Ecology) ;
Kristiansen, Kristian (Göteborgs universitet. Institutionen för historiska studier) ;
Kubatbek, Tabaldiev (Kyrgyz-Turkish Manas University. Department of History) ;
Kuderna, Lukas (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Kuznetsov, Pavel (Samara State University of Social Science and Education) ;
Laleh, Haeedeh (University of Tehran. Department of Archaeology) ;
Leonard, Jennifer A. (Estación Biológica de Doñana) ;
Lhuillier, Johanna (Maison de l'Orient et de la Méditerranée. Laboratoire Archéorient) ;
Liesau von Lettow-Vorbeck, Corina (Universidad Autónoma de Madrid. Departamento de Prehistoria y Arqueología) ;
Logvin, Andrey (Kostanay State University. Laboratory for Archaeological Research) ;
Lõugas, Lembi (Tallinn University. Archaeological Research Collection) ;
Ludwig, Arne (Leibniz-Institut für Zoo- und Wildtierforschung) ;
Luis, Cristina (Universidade de Lisboa. Centro Interuniversitário de História das Ciências e da Tecnologia) ;
Arruda, Ana Margarida (Uniarq) ;
Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Matoso Silva, Raquel. (Instituto Universitário de Lisboa) ;
Merz, Victor (S.Toraighyrov Pavlodar State University) ;
Mijiddorj, Enkhbayar (Ulaanbaatar State University. Department of Archaeology) ;
Miller, Bryan K. (University of Oxford. Faculty of History) ;
Monchalov, Oleg (Samara State University of Social Science and Education) ;
Mohaseb, Fatemeh A. (National Museum of Iran. Department of Osteology) ;
Morales, Arturo (Universidad Autónoma de Madrid. Laboratorio de Arqueozoología) ;
Nieto-Espinet, Ariadna (Universitat de Lleida. Departament d'Història. Grup d'Investigació Prehistòrica) ;
Nistelberger, Heidi (Universitetet i Oslo. Institutt for biovitenskap) ;
Onar, Vedat Onar (İstanbul Üniversitesi - Cerrahpaşa. Faculty of Veterinary Medicine. Department of Anatomy) ;
Pálsdóttir, Albína H. (The Agricultural University of Icelan. Faculty of Agricultural and Environmental Sciences) ;
Pitulko, Vladimir (Russian Academy of Sciences. Institute for the History of Material Culture) ;
Pitskhelauri, Konstantin (Ivane Javakhishvili Tbilisi State University) ;
Pruvost, Mélanie (Université de Bordeaux) ;
Rajic Sikanjic, Petra (Institute for Anthropological Research (Zagreb, Croàcia)) ;
Rapan Papeša, Anita (Vinkovci Municipal Museum (Croàcia)) ;
Roslyakova, Natalia u Samara State University of Social Science and Education ;
Sardari, Alireza (Iranian Center for Archaeological Research) ;
Sauer, Eberhard (The University of Edinburgh. School of History, Classics and Archaeology) ;
Schafberg, Renate (Martin-Luther-Universität Halle-Wittenberg. Central Natural Science Collections) ;
Scheu, Amelie (Johannes Gutenberg-Universität Mainz. Institut für Organismische und Molekulare Evolutionsbiologie) ;
Schibler, Jörg (Integrative prähistorische und naturwissenschaftliche Archäologie) ;
Schlumbaum, Angela (Integrative prähistorische und naturwissenschaftliche Archäologie) ;
Serrand, Nathalie (Muséum National d'Histoire Naturelle (Paris, França)) ;
Serres-Armero, Aitor (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Shapiro, Beth (University of California. Department of Ecology and Evolutionary Biology) ;
Sheikhi Seno, Shiva (National Museum of Iran. Department of Osteology) ;
Shevnina, Irina (Kostanay State University. Laboratory for Archaeological Research) ;
Shidrang, Sonia (University of Kashan. aeedi Institute for Advanced Studies) ;
Southon, John (University of California. Department Earth System Science) ;
Star, Bastiaan (Universitetet i Oslo. Senter for økologisk og evolusjonær syntese) ;
Sykes, Naomi (University of Nottingham. Department of Archaeology) ;
Taheri, Kamal (Kermanshah Regional Water Authority (Iran)) ;
Taylor, William (Max-Planck-Institut für Menschheitsgeschichte) ;
Teegen, Wolf-Rüdiger (Institut für Ur- und Frühgeschichte und Archäologie der römischen Provinzen) ;
Trbojević Vukičević, Tajana (University of Zagreb. Faculty of Veterinary Medicine. Department of Anatomy, Histology and Embryology) ;
Trixl, Simon (Institut für Ur- und Frühgeschichte und Archäologie der römischen Provinzen) ;
Tumen, Dashzeveg (National University of Mongolia. Department of Anthropology and Archaeology) ;
Undrakhbold, Sainbileg (National University of Mongolia. Ecology Group) ;
Usmanova, Emma (Buketov Karaganda State University. Saryarka Archaeological Institute) ;
Vahdati, Ali (Iranian Center for Archaeological Research) ;
Valenzuela-Lamas, Silvia (Institució Milà i Fontanals) ;
Viegas, Catarina (Universidade de Lisboa. Faculdade de Letras. Centro de Arqueologia) ;
Wallner, Barbara (Vetmeduni Vienna. Institut für Tierzucht und Genetik) ;
Weinstock, Jaco (University of Southampton. Faculty of Humanities) ;
Zaibert, Victor (Al Farabi Kazakh National University. Scientific Research Institute of Archaeology and Steppe Civilizations) ;
Clavel, Benoit (Muséum National d'Histoire Naturelle, Archéozoologie, Archéobotanique, Sociétés, Pratiques et Environnements (Paris, França)) ;
Lepetz, Sébastien (Muséum National d'Histoire Naturelle, Archéozoologie, Archéobotanique, Sociétés, Pratiques et Environnements (Paris, França)) ;
Mashkour, Marjan (National Museum of Iran. Department of Osteology) ;
Helgason, Agnar (deCODE Genetics (Reykjavík, Islàndia)) ;
Stefánsson, Kári (deCODE Genetics (Reykjavík, Islàndia)) ;
Barrey, Eric (AgroParisTech) ;
Willerslev, Eske (Københavns Universitet. Sektion for Geogenetik) ;
Outram, Alan K. (University of Exeter. Department of Archaeology) ;
Librado, Pablo (Université Paul Sabatier. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse) ;
Orlando, Ludovic (Université Paul Sabatier. Laboratoire d'Anthropobiologie Moléculaire et d'Imagerie de Synthèse)
Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (≥1-fold coverage), 87 of which are new. [...]
2019 - 10.1016/j.cell.2019.03.049
Cell, Vol. 177, issue 6 (May 2019) , p. 1419-1435.e31
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3 p, 103.8 KB |
Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing
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Angona, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Fernández-Rodríguez, C. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Alvarez-Larrán, A. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Camacho, Laura (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Longarón, Raquel (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Torres, E. (Hospital del Mar (Barcelona, Catalunya)) ;
Pairet, S. (Hospital del Mar (Barcelona, Catalunya)) ;
Besses Raebel, C (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Bellosillo Paricio, Beatriz (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Universitat Autònoma de Barcelona
2016 - 10.1038/bcj.2016.75
Blood Cancer Journal, Vol. 6 (08 2016) , p. e463
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11 p, 445.0 KB |
Validation of the 'Test of the Adherence to Inhalers' (TAI) for Asthma and COPD Patients
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Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández-Rodríguez, Concepción (Universidad de Oviedo) ;
Melero, Carlos (Hospital Universitario 12 de Octubre (Madrid)) ;
Cosio, Borja G.. (Institut d'Investigació Sanitària Illes Balears) ;
Entrenas, Luís Manuel (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Pérez de Llano, Luis (Hospital Universitario Lucus Augusti (Lugo)) ;
Gutiérrez-Pereyra, Fernando (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Tarragona, Eduard (Chiesi Espanya. Departament Mèdic) ;
Palomino, Rosa (GOC Networking) ;
López Viña, Antolín (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Universitat Autònoma de Barcelona
Background: To validate the 'Test of Adherence to Inhalers' (TAI), a 12-item questionnaire designed to assess the adherence to inhalers in patients with COPD or asthma. Methods: A total of 1009 patients with asthma or COPD participated in a cross-sectional multicenter study. [...]
2016 - 10.1089/jamp.2015.1212
Journal of Aerosol Medicine and Pulmonary Drug Delivery, Vol. 29 (april 2016) , p. 142-152
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