Guillem Pintos-Morell

Affiliations

Centre for Rare Diseases, University Hospital Vall d'Hebron, Barcelona, CIBERER-GCV08_IGTP Research Institute and Teaching Unit Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.

Publications (20)

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.

Drug design, development and therapy

Avec: Uma Ramaswami , Michael Beck , Derralynn Hughes , Christoph Kampmann , Jaco Botha , Guillem Pintos-Morell , Michael L West , Dau-Ming Niu , Kathy Nicholls , Roberto Giugliani , Auteur inconnu

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

Genes

Avec: 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

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.

Drug design, development and therapy

Avec: Rossella Parini , Guillem Pintos-Morell , Julia B Hennermann , Ting-Rong Hsu , Nesrin Karabul , Vasiliki Kalampoki , Andrey Gurevich , Uma Ramaswami , Auteur inconnu

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Neurology. Genetics

Avec: Alfonsina Ballester-Lopez , Judit Núñez-Manchón , Emma Koehorst , Ian Linares-Pardo , Miriam Almendrote , Giuseppe Lucente , Nicolau Guanyabens , Marta Lopez-Osias , Adrián Suárez-Mesa , Shaliza Ann Hanick , Jakub Chojnacki , Alejandro Lucia , Guillem Pintos-Morell , Jaume Coll-Cantí , Alicia Martínez-Piñeiro , Alba Ramos-Fransi , Gisela Nogales-Gadea

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

Journal of clinical medicine

Avec: Emma Koehorst , Judit Núñez-Manchón , Alfonsina Ballester-López , Miriam Almendrote , Giuseppe Lucente , Andrea Arbex , Jakub Chojnacki , Rafael P Vázquez-Manrique , Ana Pilar Gómez-Escribano , Guillem Pintos-Morell , Jaume Coll-Cantí , Alba Ramos-Fransi , Alicia Martínez-Piñeiro , Mònica Suelves , Gisela Nogales-Gadea

Addressing Diagnostic Gaps and Priorities of the Global Rare Diseases Community: Recommendations from the IRDiRC Diagnostics Scientific Committee.

European journal of medical genetics

Avec: David R Adams , Clara Dm van Karnebeek , Sergi Beltran Agullo , Víctor Faundes , Saumya Shekhar Jamuar , Sally Ann Lynch , Guillem Pintos-Morell , Ratna Dua Puri , Ruty Shai , Charles A Steward , Biruté Tumiene , Alain Verloes , Auteur inconnu

Eight novel variants in the

The European respiratory journal

Avec: Åsa Lina M Jönsson , Elisabeth Bendstrup , Susie Mogensen , Elizabeth J Kopras , Francis X McCormack , Ilaria Campo , Francesca Mariani , Amparo Escribano-Montaner , Are M Holm , Maria Del Mar Martinez-Colls , Guillem Pintos-Morell , Camille Taillé , Bruno Crestani , Ole Hilberg , Jane Hvarregaard Christensen , Ulf Simonsen

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

Journal of extracellular vesicles

Avec: 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 , Ibane Abasolo

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

Journal of clinical medicine

Avec: 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

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism

Avec: D Moreno-Martinez , P Aguiar , C Auray-Blais , M Beck , D G Bichet , A Burlina , D Cole , P Elliott , U Feldt-Rasmussen , S Feriozzi , J Fletcher , R Giugliani , A Jovanovic , C Kampmann , M Langeveld , O Lidove , A Linhart , M Mauer , J C Moon , A Muir , A Nowak , J P Oliveira , A Ortiz , G Pintos-Morell , J Politei , P Rozenfeld , R Schiffmann , E Svarstad , A S Talbot , M Thomas , C Tøndel , D Warnock , M L West , D A Hughes

Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease.

Wiley interdisciplinary reviews. Nanomedicine and nanobiotechnology

Avec: Ibane Abasolo , Joaquin Seras-Franzoso , Marc Moltó-Abad , Vanessa Díaz-Riascos , José Luis Corchero , Guillem Pintos-Morell , Simó Schwartz

Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

Blood cells, molecules & diseases

Avec: Clara Carnicer-Cáceres , Yolanda Villena-Ortiz , Laura Castillo-Ribelles , Raquel Barquín-Del-Pino , Maria Camprodon-Gomez , Ana Felipe-Rucián , David Moreno-Martínez , Sara Lucas-Del-Pozo , Jorge Hernández-Vara , Anna García-Serra , Ariadna Tigri-Santiña , Marc Moltó-Abad , Irene Agraz-Pamplona , Jose F Rodriguez-Palomares , Javier Limeres-Freire , Marc Macaya-Font , Victor Rodríguez-Sureda , Lucy Dougherty-De Miguel , Mireia Del-Toro-Riera , Guillem Pintos-Morell , Jose Antonio Arranz-Amo

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

Human mutation

Avec: Alfonsina Ballester-Lopez , Emma Koehorst , Miriam Almendrote , Alicia Martínez-Piñeiro , Giuseppe Lucente , Ian Linares-Pardo , Judit Núñez-Manchón , Nicolau Guanyabens , Antoni Cano , Alejandro Lucia , Gayle Overend , Sarah A Cumming , Darren G Monckton , Teresa Casadevall , Irina Isern , Josep Sánchez-Ojanguren , Albert Planas , Agustí Rodríguez-Palmero , Laura Monlleó-Neila , Guillem Pintos-Morell , Alba Ramos-Fransi , Jaume Coll-Cantí , Gisela Nogales-Gadea

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.

Journal of pharmaceutical and biomedical analysis

Avec: Fernando Andrade , Isidro Vitoria , Elena Martín Hernández , Guillem Pintos-Morell , Patricia Correcher , Rocío Puig-Piña , Pilar Quijada-Fraile , Luis Peña-Quintana , Ana Mª Marquez , Olatz Villate , Mª Teresa García Silva , Javier de Las Heras , Leticia Ceberio , Esmeralda Rodrigues , Teresa Almeida Campos , Raquel Yahyaoui , Javier Blasco , Inmaculada Vives-Piñera , David Gil , Mireia Del Toro , Mónica Ruiz-Pons , Elvira Cañedo , Miguel Angel Barba Romero , Mª Concepción García-Jiménez , Luis Aldámiz-Echevarría

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Journal of inherited metabolic disease

Avec: Johannes Häberle , Alberto Burlina , Anupam Chakrapani , Marjorie Dixon , Daniela Karall , Martin Lindner , Hanna Mandel , Diego Martinelli , Guillem Pintos-Morell , René Santer , Anastasia Skouma , Aude Servais , Galit Tal , Vicente Rubio , Martina Huemer , Carlo Dionisi-Vici

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Orphanet journal of rare diseases

Avec: Pilar Quijada-Fraile , Elena Arranz Canales , Elena Martín-Hernández , María Juliana Ballesta-Martínez , Encarna Guillén-Navarro , Guillem Pintos-Morell , Marc Moltó-Abad , David Moreno-Martínez , Salvador García Morillo , Javier Blasco-Alonso , María Luz Couce , Ricardo Gil Sánchez , Elisenda Cortès-Saladelafont , Mónica A López Rodríguez , María Teresa García-Silva , Montserrat Morales Conejo

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

Genes

Avec: 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

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

Orphanet journal of rare diseases

Avec: Michael Beck , Uma Ramaswami , Elizabeth Hernberg-Ståhl , Derralynn A Hughes , Christoph Kampmann , Atul B Mehta , Kathleen Nicholls , Dau-Ming Niu , Guillem Pintos-Morell , Ricardo Reisin , Michael L West , Jörn Schenk , Christina Anagnostopoulou , Jaco Botha , Roberto Giugliani

Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement.

Orphanet journal of rare diseases

Avec: Enrique Casado , Carlos Gómez-Alonso , Guillem Pintos-Morell , Rosa Bou-Torrent , Ana Coral Barreda-Bonis , José Vicente Torregrosa , José Jesús Broseta-Monzó , Pedro Arango-Sancho , Sara Chocrón-de-Benzaquen , Yoko Olmedilla-Ishishi , Begoña Soler-López

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

International journal of molecular sciences

Avec: Raquel Barbero-Herranz , María Garriga-García , Ana Moreno-Blanco , Esther Palacios , Pedro Ruiz-Sala , Saioa Vicente-Santamaría , Sinziana Stanescu , Amaya Belanger-Quintana , Guillem Pintos-Morell , Beatriz Arconada , Rosa Del Campo , José Avendaño-Ortiz

Réseau de co-auteurs

Emma Koehorst 5 collaborations

Judit Núñez-Manchón 5 collaborations

Jaume Coll-Cantí 5 collaborations

Miriam Almendrote 5 collaborations

Giuseppe Lucente 5 collaborations

Alba Ramos-Fransi 5 collaborations

Alicia Martínez-Piñeiro 5 collaborations

Gisela Nogales-Gadea 5 collaborations

Marc Moltó-Abad 5 collaborations

Alfonsina Ballester-Lopez 4 collaborations

Ian Linares-Pardo 4 collaborations

Alejandro Lucia 4 collaborations

Uma Ramaswami 3 collaborations

None None 3 collaborations

Andrea Arbex 3 collaborations

Darren G Monckton 3 collaborations

Sarah A Cumming 3 collaborations

Michael Beck 2 collaborations

Christoph Kampmann 2 collaborations

Jaco Botha 2 collaborations

Michael L West 2 collaborations

Dau-Ming Niu 2 collaborations

Roberto Giugliani 2 collaborations

Nicolau Guanyabens 2 collaborations

Jakub Chojnacki 2 collaborations

Joaquin Seras-Franzoso 2 collaborations

José Luis Corchero 2 collaborations

Simó Schwartz 2 collaborations

Ibane Abasolo 2 collaborations

Clara Carnicer-Cáceres 2 collaborations

Jose Antonio Arranz-Amo 2 collaborations

Maria Camprodon-Gomez 2 collaborations

Sara Lucas-Del-Pozo 2 collaborations

Ariadna Tigri-Santiña 2 collaborations

Irene Agraz-Pamplona 2 collaborations

Jose F Rodriguez-Palomares 2 collaborations

Jorge Hernández-Vara 2 collaborations

Mireia Del-Toro-Riera 2 collaborations

David Moreno-Martínez 2 collaborations

Pilar Quijada-Fraile 2 collaborations

Derralynn Hughes 1 collaboration

Kathy Nicholls 1 collaboration

Jonathan J Magaña 1 collaboration

Nadia M Murillo-Melo 1 collaboration

Rossella Parini 1 collaboration

Julia B Hennermann 1 collaboration

Ting-Rong Hsu 1 collaboration

Nesrin Karabul 1 collaboration

Vasiliki Kalampoki 1 collaboration

Andrey Gurevich 1 collaboration

Marta Lopez-Osias 1 collaboration

Adrián Suárez-Mesa 1 collaboration

Shaliza Ann Hanick 1 collaboration

Alfonsina Ballester-López 1 collaboration

Rafael P Vázquez-Manrique 1 collaboration

Ana Pilar Gómez-Escribano 1 collaboration

Mònica Suelves 1 collaboration

David R Adams 1 collaboration

Clara Dm van Karnebeek 1 collaboration

Sergi Beltran Agullo 1 collaboration

Víctor Faundes 1 collaboration

Saumya Shekhar Jamuar 1 collaboration

Sally Ann Lynch 1 collaboration

Ratna Dua Puri 1 collaboration

Ruty Shai 1 collaboration

Charles A Steward 1 collaboration

Biruté Tumiene 1 collaboration

Alain Verloes 1 collaboration

Åsa Lina M Jönsson 1 collaboration

Elisabeth Bendstrup 1 collaboration

Susie Mogensen 1 collaboration

Elizabeth J Kopras 1 collaboration

Francis X McCormack 1 collaboration

Ilaria Campo 1 collaboration

Francesca Mariani 1 collaboration

Amparo Escribano-Montaner 1 collaboration

Are M Holm 1 collaboration

Maria Del Mar Martinez-Colls 1 collaboration

Camille Taillé 1 collaboration

Bruno Crestani 1 collaboration

Ole Hilberg 1 collaboration

Jane Hvarregaard Christensen 1 collaboration

Ulf Simonsen 1 collaboration

Zamira V Díaz-Riascos 1 collaboration

Patricia González 1 collaboration

Natalia García-Aranda 1 collaboration

Mònica Mandaña 1 collaboration

Roger Riera 1 collaboration

Ana Boullosa 1 collaboration

Sandra Mancilla 1 collaboration

Alba Grayston 1 collaboration

Elena Garcia-Fruitós 1 collaboration

Rosa Mendoza 1 collaboration

Lorenzo Albertazzi 1 collaboration

Anna Rosell 1 collaboration

Josefina Casas 1 collaboration

Antonio Villaverde 1 collaboration

Cristina Cea-Arestin 1 collaboration

David Moreno-Martinez 1 collaboration

Mar Armengol-Bellapart 1 collaboration

D Moreno-Martinez 1 collaboration

P Aguiar 1 collaboration

C Auray-Blais 1 collaboration

M Beck 1 collaboration

D G Bichet 1 collaboration

A Burlina 1 collaboration

D Cole 1 collaboration

P Elliott 1 collaboration

U Feldt-Rasmussen 1 collaboration

S Feriozzi 1 collaboration

J Fletcher 1 collaboration

R Giugliani 1 collaboration

A Jovanovic 1 collaboration

C Kampmann 1 collaboration

M Langeveld 1 collaboration

O Lidove 1 collaboration

A Linhart 1 collaboration

M Mauer 1 collaboration

J C Moon 1 collaboration

A Muir 1 collaboration

A Nowak 1 collaboration

J P Oliveira 1 collaboration

A Ortiz 1 collaboration

G Pintos-Morell 1 collaboration

J Politei 1 collaboration

P Rozenfeld 1 collaboration

R Schiffmann 1 collaboration

E Svarstad 1 collaboration

A S Talbot 1 collaboration

M Thomas 1 collaboration

C Tøndel 1 collaboration

D Warnock 1 collaboration

M L West 1 collaboration

D A Hughes 1 collaboration

Vanessa Díaz-Riascos 1 collaboration

Yolanda Villena-Ortiz 1 collaboration

Laura Castillo-Ribelles 1 collaboration

Raquel Barquín-Del-Pino 1 collaboration

Ana Felipe-Rucián 1 collaboration

Anna García-Serra 1 collaboration

Javier Limeres-Freire 1 collaboration

Marc Macaya-Font 1 collaboration

Victor Rodríguez-Sureda 1 collaboration

Lucy Dougherty-De Miguel 1 collaboration

Antoni Cano 1 collaboration

Gayle Overend 1 collaboration

Teresa Casadevall 1 collaboration

Irina Isern 1 collaboration

Josep Sánchez-Ojanguren 1 collaboration

Albert Planas 1 collaboration

Agustí Rodríguez-Palmero 1 collaboration

Laura Monlleó-Neila 1 collaboration

Fernando Andrade 1 collaboration

Isidro Vitoria 1 collaboration

Elena Martín Hernández 1 collaboration

Patricia Correcher 1 collaboration

Rocío Puig-Piña 1 collaboration

Luis Peña-Quintana 1 collaboration

Ana Mª Marquez 1 collaboration

Olatz Villate 1 collaboration

Mª Teresa García Silva 1 collaboration

Javier de Las Heras 1 collaboration

Leticia Ceberio 1 collaboration

Esmeralda Rodrigues 1 collaboration

Teresa Almeida Campos 1 collaboration

Raquel Yahyaoui 1 collaboration

Javier Blasco 1 collaboration

Inmaculada Vives-Piñera 1 collaboration

David Gil 1 collaboration

Mireia Del Toro 1 collaboration

Mónica Ruiz-Pons 1 collaboration

Elvira Cañedo 1 collaboration

Miguel Angel Barba Romero 1 collaboration

Mª Concepción García-Jiménez 1 collaboration

Luis Aldámiz-Echevarría 1 collaboration

Johannes Häberle 1 collaboration

Alberto Burlina 1 collaboration

Anupam Chakrapani 1 collaboration

Marjorie Dixon 1 collaboration

Daniela Karall 1 collaboration

Martin Lindner 1 collaboration

Hanna Mandel 1 collaboration

Diego Martinelli 1 collaboration

René Santer 1 collaboration

Anastasia Skouma 1 collaboration

Aude Servais 1 collaboration

Galit Tal 1 collaboration

Vicente Rubio 1 collaboration

Martina Huemer 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Elena Arranz Canales 1 collaboration

Elena Martín-Hernández 1 collaboration

María Juliana Ballesta-Martínez 1 collaboration

Encarna Guillén-Navarro 1 collaboration

Salvador García Morillo 1 collaboration

Javier Blasco-Alonso 1 collaboration

María Luz Couce 1 collaboration

Ricardo Gil Sánchez 1 collaboration

Elisenda Cortès-Saladelafont 1 collaboration

Mónica A López Rodríguez 1 collaboration

María Teresa García-Silva 1 collaboration

Montserrat Morales Conejo 1 collaboration

Carles Puente 1 collaboration

Elizabeth Hernberg-Ståhl 1 collaboration

Derralynn A Hughes 1 collaboration

Atul B Mehta 1 collaboration

Kathleen Nicholls 1 collaboration

Ricardo Reisin 1 collaboration

Jörn Schenk 1 collaboration

Christina Anagnostopoulou 1 collaboration

Enrique Casado 1 collaboration

Carlos Gómez-Alonso 1 collaboration

Rosa Bou-Torrent 1 collaboration

Ana Coral Barreda-Bonis 1 collaboration

José Vicente Torregrosa 1 collaboration

José Jesús Broseta-Monzó 1 collaboration

Pedro Arango-Sancho 1 collaboration

Sara Chocrón-de-Benzaquen 1 collaboration

Yoko Olmedilla-Ishishi 1 collaboration

Begoña Soler-López 1 collaboration

Raquel Barbero-Herranz 1 collaboration

María Garriga-García 1 collaboration

Ana Moreno-Blanco 1 collaboration

Esther Palacios 1 collaboration

Pedro Ruiz-Sala 1 collaboration

Saioa Vicente-Santamaría 1 collaboration

Sinziana Stanescu 1 collaboration

Amaya Belanger-Quintana 1 collaboration

Beatriz Arconada 1 collaboration

Rosa Del Campo 1 collaboration

José Avendaño-Ortiz 1 collaboration