Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey

by Miguel-Ángel Barba-Romero, Guillem Pintos-Morell
Published 2016-11-01

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani
Published 2018-03-01

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos-Morell, Uma Ramaswami, Michael West, Anna Wijatyk, Roberto Giugliani
Published 2015-06-01

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

by Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro
Published 2018-06-01

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

by Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell, Grupo T-CiS.bcn
Published 2015-05-01

Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

by Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell, Grupo T-CiS.bcn
Published 2015-05-01

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

by Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Published 2020-11-01

A 15-Year Perspective of the Fabry Outcome Survey

by Roberto Giugliani MD, PhD, Dau-Ming Niu MD, PhD, Uma Ramaswami MD, Michael West MD, Derralynn Hughes MD, Christoph Kampmann MD, PhD, Guillem Pintos-Morell MD, PhD, Kathleen Nicholls MD, Jörn-Magnus Schenk MD, PhD, Michael Beck MD
Published 2016-09-01

Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto

by Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gámez, Judit García-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J. Vicens Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell, Grupo T-CiS.bcn
Published 2016-11-01

A coordinated transition model for patients with cystinosis: from pediatric to adult care

by Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gámez, Judit García-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J. Vicenç Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell, Grupo T-CiS.bcn
Published 2016-11-01

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

by Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Published 2020-07-01

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-Up

by Clara Carnicer-Cáceres, Jose Antonio Arranz-Amo, Cristina Cea-Arestin, Maria Camprodon-Gomez, David Moreno-Martinez, Sara Lucas-Del-Pozo, Marc Moltó-Abad, Ariadna Tigri-Santiña, Irene Agraz-Pamplona, Jose F Rodriguez-Palomares, Jorge Hernández-Vara, Mar Armengol-Bellapart, Mireia del-Toro-Riera, Guillem Pintos-Morell
Published 2021-04-01

Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

by Joaquin Seras‐Franzoso, Zamira V. Díaz‐Riascos, José Luis Corchero, Patricia González, Natalia García‐Aranda, Mònica Mandaña, Roger Riera, Ana Boullosa, Sandra Mancilla, Alba Grayston, Marc Moltó‐Abad, Elena Garcia‐Fruitós, Rosa Mendoza, Guillem Pintos‐Morell, Lorenzo Albertazzi, Anna Rosell, Josefina Casas, Antonio Villaverde, Simó Schwartz Jr, Ibane Abasolo
Published 2021-03-01

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

by Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia
Published 2017-11-01

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

by Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Published 2016-05-01