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291 results on '"Pintos-Morell, Guillem"'

3. Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trial

Author

Aguilar-Uroz, Adrià, Rosell-García-Ufano, Adrià, Escudero Planas, Adrián, Baelo, Aida, Villahoz Martín, Ainhoa, Moreno López, Alberto, Roldan Ruiz, Alberto, Santana Briongos, Alberto, Tejera Bodas, Alberto, Alonso-Vallés, Alejandro, Fletes-Pérez, Alejandro, Hueso-Mor, Alejandro, Boluda, Alex, Santamaria, Alex, Diestro, Alicia Santos, Revuelta-Álvarez, Almudena, Moreno Moreno, Álvaro, Ortega de Felipe, Ana, Chen-Ye, Ana, Blázquez Valerón, Ana, Rodríguez Pérez, Ana Belén, Tristán Morgalo, Ana Laura, Fernández-Allende, Ana Luisa, Bagán-Trejo, Andrea, Fernández Juan, Andrés, Zalve-Cano, Ángel, Mateo-Martínez, Anna, Galván, Antonio Valero, Egidos-Plaja, Antonio, Jorge, Ariadna, Fraile Torres, Arturo, Pareja Leal, Azahara Maria, Viader Castro, Bárbara, Fernandez Beato, Barbara, Naveira Menchen, Barbara, Martin Poyatos, Beatriz, García-Martínez, Beatriz, Rodrigo Testillano, Belén, Blanco Tejedor, Belen, López Pérez, Blanca, Mencía Hernanz, Blanca, González-Beiras, Camila, Batres, Carlos, Nuñez Garcia, Carmen, Merino-Rodríguez, Carmen, Rodríguez-Gilabert, Carolina, Bonilla Penedo, Celia, Casado Gomez, Christian, Gonzalez Perez, Claudia, Galindo-Tomás, Claudia, Peral Bolaños, Cristina, Blanco-Montes, Cristina, Lupu-Yakovleva, Cristina, Lopez Ruiz, Cristina, Perez Mayoral, Cristina, Fornes, Cristina, Garcia Corrochano, Cristobal, Gallardo Álvarez, Daniel, Navarro Sanz, Daniel, Sanz Barrio, David, Ramet Meseguer, Debora, Vera-Jurado, Edna Margarita, Perez Costa, Eduardo, Bustillos-Sebastian, Eilen Junet, Palomar Casado, Elena, Guerrero, Elena Dorrego, Medina Mateos, Elena, Aragón Gaspar, Elisa Rebeca, Herrero-Vila, Elisabeth, Paez Herrera, Enriqueta, Rojas Powel, Esmeralda, Robres Medialdea, Esther, Vall-Ribalta, Esther, Lopez Perez, Eva, Mihaela Fer, Felicia, Vazquez Ángeles, Fernanda, Tirado Bejarano, Fernando, Prats-Domenech, Ferran, Borràs Martí, Ferran, Ardila-Mejia, Gabriela, Costes, Gèlia, Gómez Arquero, Gema, Flores Mateo, Gemma, Pintos-Morell, Guillem, Mira-Centelles, Helena, Astola Requena, Ignacio, Ortega Martin, Ignacio, Leivas-Gutierrez, Iker, Escribano Valenciano, Irene, Muñoz Gomez, Irene, Ortega, Irina, Montserrat-Lloan, Isabel, Gamboa, Itziar, Rodríguez de Torres de Paul, Jacobo, Cahís, Jordi, Muñoz-Martinez, Jordi, Bermejo, Jorge Iglesias, Cejas López, Joselvis Virginia, Canudas, Josep, García Lucas, Juan Antonio, Martínez-Pino, Juan Carlos, Torres Martínez, Juana, Pujol-Corney, Judit, González Jiménez, Judith, Gurí, Júlia, Labella Martín, Julio, Garcia-Cano, Laia, Perez Plata, Lara Sonsoles, Muñoz Álvaro, Laura, Rodríguez Andrés, Laura, Vega Ruiz, Laura, Cuevas Valiente, Laura, Díaz Rodríguez, Laura, Puigros, Laura, Cristina Piciorang, Lavinia, Escudero, Leticia, Figueroa Caballero, Liliana, Ferrerfàbrega-Costals, Lluna, Costafreda-Hernández, Lucía, De-Paúl, Lucía, González Fernández-Medina, Luis, Moliner Prada, M<ce:sup loc='post">a</ce:sup> Carmen, Berriochoa Martínez de Pisón, M<ce:sup loc='post">a</ce:sup> Cristina, Blanco Blasco, Maria, Gil Jorge, Maria, Cortijo Caballero, María, Ubals, Maria, Gordillo, Maria, Guilloto López, Maria Alicia, Moreno Calvo, Maria Concepción, Gil García, María del Rosario, Dueñas Román, María Inmaculada, Gonzalez Sanchez, Maria Josefa, Nicolás Campoy, María Luisa, González Velayos, Maria Luz, Zori, Mario Mejías, Maqueda, Mario Oliva, Caño de la Cruz, Mario, Palau-Morral, Mariona, Martín-Muñoz, Marta, Cereceda Meca, Marta, Díaz Urbina, Marta, VerónicaPlazas, Martha, Vall-Mayans, Martí, Blasco, Martí, Jane Chu-Sifuentes, Mary, García de Villasladad Peñaranda, Miguel, Hernanz Sotoca, Miguel, Iglesias Gonzalez, Miguel, Labrador-Galván, Miguel Ángel, Rodrigo de Vivar Azcarate, Miguel, Gil-Fibla, Miquel, Formentí-Pallarés, Miquel, Esteve-Tugues, Mireia, Juanes Perez, Miriam, López Rubio, Miriam, Recuero Renales, Mirian, Hijós-Rullo, Mònica, Lleonart-Abadia, Montserrat, Finelli, Nadia, Rojas-Bertier, Naiara, Reyes-Calderón, Nataly, Casado Larrañaga, Nerea, Zurita Castrosin, Nerea Nuria, Álvarez-Nieto, Noélia, Leiva-Mora, Nuria, Tomillo-Martín, Olga, Belghazi, Omar, Buscà, Oriol, Mendoza Cediel, Pablo, Macedo, Pablo, Rodríguez Barroso, Patricia, Ruiz Álvarez, Patricia, López, Patricia Morales, Vara de Rey, Patricia Jimenez, Ginés, Paz Lozano, Bris Rodriguez, Pilar, Martínez-Alamillo, Pilar, Salmerón Martínez, Rafa, Botello Ariza, Raquel, Vaquero Mena, Raquel, González-Alonso, Raquel, Kaczmarczyk, Raul, Barnadas Vintró, Rita, Hontecillas Martínez, Rodrigo, Ribot-Rodríguez, Rosa, Escobar-Sánchez, Rosa, Montes Trinidad, Rosario Paloma, Martínez Quintana, Rubén, Arnay Arrogante, Ruben, Berjon Sanchez, Ruben, Picazo Navarro, Ruben, Bastos, Rubén, Martín Molinero, Samuel, Israel-Benchaya, Samuel Dan, Muñoz-Burguillo, Sandra, Rodríguez-Salvador, Sandra, Avila, Sara, Corral Gayubas, Sara, Nuñez Sánchez, Sergio, Torres Weber, Sofía, Encabo Lopez, Susana, Torices Rasines, Teresa, Sallas, Valentí, Curto-Vicente, Verónica, Gómez Hijosa, Verónica, Daimiel-Pedrote, Verónica, Gozalo, Verónica, Barrios López, Vicente, Castillo Montoya, Virginia Ivette, Espinoza Pérez, Yuri, CristinaBerriochoa Martínez de Pisón, María, Muñoz Castillo, David, Donato, Carlos, García García, Isabel, Alemany, Andrea, Millat-Martinez, Pere, Corbacho-Monné, Marc, Suñer, Clara, Galvan-Casas, Cristina, Carrera, Caty, Ouchi, Dan, Prat, Núria, Ara, Jordi, Nadal, Nuria, Riel, Ricard, Funollet, Blanca, Ojeda-Ciurana, Carmen, Balague, Lluis Esteve, Salvador-González, Betlem, Arcarons, Anna Forcada, Vidal-Alaball, Josep, Del Cura-González, María Isabel, Barrientos, Ricardo Rodríguez, Ramos-Blanes, Rafel, Bou, Alberto Alum, Mondou, Elsa, Torres, Mireia, Campins, Neus, Sanz, Ana, Tang, Yonggiang, Rodriguez-Arias, Miquel Àngel, Bassat, Quique, Clotet, Bonaventura, and Mitjà, Oriol

Published
2023
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4. Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Author

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

Published
2023
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6. The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Author

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

Subjects
SANFILIPPO syndrome, GUT microbiome, HEPARAN sulfate, CONGENITAL disorders, QUALITY of life, BACTEROIDES fragilis
Abstract

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease caused by congenital enzymatic deficiencies in heparan sulfate (HS) degradation, leading to organ dysfunction. The most severe hallmark of MPS III comprises neurological alterations, although gastrointestinal symptoms (GISs) have also been shown to be relevant in many patients. Here, we explored the contribution of the gut microbiota to MPS III GISs. We analyzed the composition and functionality of the gut microbiota in two MPS III siblings with the same mutation (c.544C > T, c.1080delC, in the SGSH gene) and the same diet, but with differences in their GISs, including recurrent diarrhea in one of them. Using 16S sequencing, we observed that the MPS III patients exhibited decreased alpha diversity and a lower abundance of Lachnospiraceae and Bifidobacteriaceae accompanied by a higher abundance of the Ruminococcaceae and Rikenellaceae families than the healthy control subjects. Comparing siblings, we found an increased abundance of Bacteroidaceae and a lower abundance of Ruminococcaceae and Akkermansiaceae in the GIS-free patient. This patient also had a higher relative abundance of Sus genes (SusA, SusB, SusE, and SusG) involved in glycosaminoglycan metabolism. We found higher HS levels in the stool of the two MPS III patients than in healthy volunteers, particularly in the patient with GISs. Functionally, whole fecal metabolites from the patient with GISs induced oxidative stress in vitro in healthy monocytes. Finally, the Bacteroides thetaiotaomicron strain isolated from MPS III stool samples exhibited HS degradation ability. Overall, our results reveal different microbiota compositions and functionalities in MPS III siblings, who exhibited differential gastrointestinal symptomatology. Our study may serve as a gateway to explore the impact of the gut microbiota and its potential to enhance the quality of life in Sanfilippo syndrome patients. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Author

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

Published
2021
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9. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

Author

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

Published
2019
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10. Rare Neurodegenerative Diseases: Clinical and Genetic Update

Author

Matilla-Dueñas, Antoni, Corral-Juan, Marc, Rodríguez-Palmero Seuma, Agustí, Vilas, Dolores, Ispierto, Lourdes, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel, Volpini, Víctor, Serrano-Munuera, Carmen, Pintos-Morell, Guillem, Álvarez, Ramiro, Sánchez, Ivelisse, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
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11. Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins

Author

Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Coenen, Daniëlle, Ara, Ignacio, Rodriguez-Lopez, Carlos, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Lucente, Giuseppe, Almendrote, Miriam, Coll-Cantí, Jaume, Pintos-Morell, Guillem, Santos-Lozano, Alejandro, Arenas, Joaquin, Martín, Miguel Angel, de Castro, Mauricio, Lucia, Alejandro, Santalla, Alfredo, and Nogales-Gadea, Gisela

Published
2018
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12. Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype

Author

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

Published
2020
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15. Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trial

Author

Alemany, Andrea, primary, Millat-Martinez, Pere, additional, Corbacho-Monné, Marc, additional, Suñer, Clara, additional, Galvan-Casas, Cristina, additional, Carrera, Caty, additional, Ouchi, Dan, additional, Prat, Núria, additional, Ara, Jordi, additional, Nadal, Nuria, additional, Riel, Ricard, additional, Funollet, Blanca, additional, Ojeda-Ciurana, Carmen, additional, Balague, Lluis Esteve, additional, Salvador-González, Betlem, additional, Arcarons, Anna Forcada, additional, Vidal-Alaball, Josep, additional, Del Cura-González, María Isabel, additional, Barrientos, Ricardo Rodríguez, additional, Ramos-Blanes, Rafel, additional, Bou, Alberto Alum, additional, Mondou, Elsa, additional, Torres, Mireia, additional, Campins, Neus, additional, Sanz, Ana, additional, Tang, Yonggiang, additional, Rodriguez-Arias, Miquel Àngel, additional, Bassat, Quique, additional, Clotet, Bonaventura, additional, Mitjà, Oriol, additional, Aguilar-Uroz, Adrià, additional, Rosell-García-Ufano, Adrià, additional, Escudero Planas, Adrián, additional, Baelo, Aida, additional, Villahoz Martín, Ainhoa, additional, Moreno López, Alberto, additional, Roldan Ruiz, Alberto, additional, Santana Briongos, Alberto, additional, Tejera Bodas, Alberto, additional, Alonso-Vallés, Alejandro, additional, Fletes-Pérez, Alejandro, additional, Hueso-Mor, Alejandro, additional, Boluda, Alex, additional, Santamaria, Alex, additional, Diestro, Alicia Santos, additional, Revuelta-Álvarez, Almudena, additional, Moreno Moreno, Álvaro, additional, Ortega de Felipe, Ana, additional, Chen-Ye, Ana, additional, Blázquez Valerón, Ana, additional, Rodríguez Pérez, Ana Belén, additional, Tristán Morgalo, Ana Laura, additional, Fernández-Allende, Ana Luisa, additional, Bagán-Trejo, Andrea, additional, Fernández Juan, Andrés, additional, Zalve-Cano, Ángel, additional, Mateo-Martínez, Anna, additional, Galván, Antonio Valero, additional, Egidos-Plaja, Antonio, additional, Jorge, Ariadna, additional, Fraile Torres, Arturo, additional, Pareja Leal, Azahara Maria, additional, Viader Castro, Bárbara, additional, Fernandez Beato, Barbara, additional, Naveira Menchen, Barbara, additional, Martin Poyatos, Beatriz, additional, García-Martínez, Beatriz, additional, Rodrigo Testillano, Belén, additional, Blanco Tejedor, Belen, additional, López Pérez, Blanca, additional, Mencía Hernanz, Blanca, additional, González-Beiras, Camila, additional, Batres, Carlos, additional, Nuñez Garcia, Carmen, additional, Merino-Rodríguez, Carmen, additional, Rodríguez-Gilabert, Carolina, additional, Bonilla Penedo, Celia, additional, Casado Gomez, Christian, additional, Gonzalez Perez, Claudia, additional, Galindo-Tomás, Claudia, additional, Peral Bolaños, Cristina, additional, Blanco-Montes, Cristina, additional, Lupu-Yakovleva, Cristina, additional, Lopez Ruiz, Cristina, additional, Perez Mayoral, Cristina, additional, Fornes, Cristina, additional, Garcia Corrochano, Cristobal, additional, Gallardo Álvarez, Daniel, additional, Navarro Sanz, Daniel, additional, Sanz Barrio, David, additional, Ramet Meseguer, Debora, additional, Vera-Jurado, Edna Margarita, additional, Perez Costa, Eduardo, additional, Bustillos-Sebastian, Eilen Junet, additional, Palomar Casado, Elena, additional, Guerrero, Elena Dorrego, additional, Medina Mateos, Elena, additional, Aragón Gaspar, Elisa Rebeca, additional, Herrero-Vila, Elisabeth, additional, Paez Herrera, Enriqueta, additional, Rojas Powel, Esmeralda, additional, Robres Medialdea, Esther, additional, Vall-Ribalta, Esther, additional, Lopez Perez, Eva, additional, Mihaela Fer, Felicia, additional, Vazquez Ángeles, Fernanda, additional, Tirado Bejarano, Fernando, additional, Prats-Domenech, Ferran, additional, Borràs Martí, Ferran, additional, Ardila-Mejia, Gabriela, additional, Costes, Gèlia, additional, Gómez Arquero, Gema, additional, Flores Mateo, Gemma, additional, Pintos-Morell, Guillem, additional, Mira-Centelles, Helena, additional, Astola Requena, Ignacio, additional, Ortega Martin, Ignacio, additional, Leivas-Gutierrez, Iker, additional, Escribano Valenciano, Irene, additional, Muñoz Gomez, Irene, additional, Ortega, Irina, additional, Montserrat-Lloan, Isabel, additional, Gamboa, Itziar, additional, Rodríguez de Torres de Paul, Jacobo, additional, Cahís, Jordi, additional, Muñoz-Martinez, Jordi, additional, Bermejo, Jorge Iglesias, additional, Cejas López, Joselvis Virginia, additional, Canudas, Josep, additional, García Lucas, Juan Antonio, additional, Martínez-Pino, Juan Carlos, additional, Torres Martínez, Juana, additional, Pujol-Corney, Judit, additional, González Jiménez, Judith, additional, Gurí, Júlia, additional, Labella Martín, Julio, additional, Garcia-Cano, Laia, additional, Perez Plata, Lara Sonsoles, additional, Muñoz Álvaro, Laura, additional, Rodríguez Andrés, Laura, additional, Vega Ruiz, Laura, additional, Cuevas Valiente, Laura, additional, Díaz Rodríguez, Laura, additional, Puigros, Laura, additional, Cristina Piciorang, Lavinia, additional, Escudero, Leticia, additional, Figueroa Caballero, Liliana, additional, Ferrerfàbrega-Costals, Lluna, additional, Costafreda-Hernández, Lucía, additional, De-Paúl, Lucía, additional, González Fernández-Medina, Luis, additional, Moliner Prada, Ma Carmen, additional, Berriochoa Martínez de Pisón, Ma Cristina, additional, Blanco Blasco, Maria, additional, Gil Jorge, Maria, additional, Cortijo Caballero, María, additional, Ubals, Maria, additional, Gordillo, Maria, additional, Guilloto López, Maria Alicia, additional, Moreno Calvo, Maria Concepción, additional, Gil García, María del Rosario, additional, Dueñas Román, María Inmaculada, additional, Gonzalez Sanchez, Maria Josefa, additional, Nicolás Campoy, María Luisa, additional, González Velayos, Maria Luz, additional, Zori, Mario Mejías, additional, Maqueda, Mario Oliva, additional, Caño de la Cruz, Mario, additional, Palau-Morral, Mariona, additional, Martín-Muñoz, Marta, additional, Cereceda Meca, Marta, additional, Díaz Urbina, Marta, additional, VerónicaPlazas, Martha, additional, Vall-Mayans, Martí, additional, Blasco, Martí, additional, Jane Chu-Sifuentes, Mary, additional, García de Villasladad Peñaranda, Miguel, additional, Hernanz Sotoca, Miguel, additional, Iglesias Gonzalez, Miguel, additional, Labrador-Galván, Miguel Ángel, additional, Rodrigo de Vivar Azcarate, Miguel, additional, Gil-Fibla, Miquel, additional, Formentí-Pallarés, Miquel, additional, Esteve-Tugues, Mireia, additional, Juanes Perez, Miriam, additional, López Rubio, Miriam, additional, Recuero Renales, Mirian, additional, Hijós-Rullo, Mònica, additional, Lleonart-Abadia, Montserrat, additional, Finelli, Nadia, additional, Rojas-Bertier, Naiara, additional, Reyes-Calderón, Nataly, additional, Casado Larrañaga, Nerea, additional, Zurita Castrosin, Nerea Nuria, additional, Álvarez-Nieto, Noélia, additional, Leiva-Mora, Nuria, additional, Tomillo-Martín, Olga, additional, Belghazi, Omar, additional, Buscà, Oriol, additional, Mendoza Cediel, Pablo, additional, Macedo, Pablo, additional, Rodríguez Barroso, Patricia, additional, Ruiz Álvarez, Patricia, additional, López, Patricia Morales, additional, Vara de Rey, Patricia Jimenez, additional, Ginés, Paz Lozano, additional, Bris Rodriguez, Pilar, additional, Martínez-Alamillo, Pilar, additional, Salmerón Martínez, Rafa, additional, Botello Ariza, Raquel, additional, Vaquero Mena, Raquel, additional, González-Alonso, Raquel, additional, Kaczmarczyk, Raul, additional, Barnadas Vintró, Rita, additional, Hontecillas Martínez, Rodrigo, additional, Ribot-Rodríguez, Rosa, additional, Escobar-Sánchez, Rosa, additional, Montes Trinidad, Rosario Paloma, additional, Martínez Quintana, Rubén, additional, Arnay Arrogante, Ruben, additional, Berjon Sanchez, Ruben, additional, Picazo Navarro, Ruben, additional, Bastos, Rubén, additional, Martín Molinero, Samuel, additional, Israel-Benchaya, Samuel Dan, additional, Muñoz-Burguillo, Sandra, additional, Rodríguez-Salvador, Sandra, additional, Avila, Sara, additional, Corral Gayubas, Sara, additional, Nuñez Sánchez, Sergio, additional, Torres Weber, Sofía, additional, Encabo Lopez, Susana, additional, Torices Rasines, Teresa, additional, Sallas, Valentí, additional, Curto-Vicente, Verónica, additional, Gómez Hijosa, Verónica, additional, Daimiel-Pedrote, Verónica, additional, Gozalo, Verónica, additional, Barrios López, Vicente, additional, Castillo Montoya, Virginia Ivette, additional, Espinoza Pérez, Yuri, additional, CristinaBerriochoa Martínez de Pisón, María, additional, Muñoz Castillo, David, additional, Donato, Carlos, additional, and García García, Isabel, additional

Published
2023
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16. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Author

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Garcia Cazorla, Angeles

Published
2015
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19. Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital

Author

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

Published
2022
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20. Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

Author

Núñez-Manchón, Judit, Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Coenen, Daniëlle, Ara, Ignacio, Rodriguez-Lopez, Carlos, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Lucente, Giuseppe, Almendrote, Miriam, Coll-Cantí, Jaume, Pintos-Morell, Guillem, Santos-Lozano, Alejandro, Arenas, Joaquin, Martín, Miguel Angel, de Castro, Mauricio, Lucia, Alejandro, Santalla, Alfredo, and Nogales-Gadea, Gisela

Published
2018
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22. Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1

Author

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

Published
2021
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24. Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Author

Carnicer-Cáceres, Clara, Arranz-Amo, Jose Antonio, Cea-Arestin, Cristina, Camprodon-Gomez, Maria, Moreno-Martinez, David, Lucas-Del-Pozo, Sara, Moltó Abad, Marc, Tigri-Santiña, Ariadna, Agraz Pamplona, Irene, Rodriguez-Palomares, Jose F.., Hernández-Vara, Jorge, Armengol-Bellapart, Mar, del Toro, Mireia, Pintos-Morell, Guillem, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C] Laboratori d'Errors Innats del Metabolisme, Laboratoris Clínics, Vall d’Hebron Hospital, Barcelona, Spain. [Camprodon-Gomez M] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Moreno-Martinez D] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK. [Lucas-Del-Pozo S] Laboratori de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. [Moltó-Abad M] Validació Funcional i Investigació Preclínica, Distribució de Fàrmacs i Grup d'Orientació, CIBIM-Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), 08035 Barcelona, Spain. [Tigri-Santiña A] Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Agraz-Pamplona I] Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Rodriguez-Palomares JF] Servei de Cardiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Hernández-Vara J, Armengol-Bellapart M] Laboratori de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Del-Toro-Riera M] Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Neurologia Pediàtrica, Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Pintos-Morell G] Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Validació Funcional i Investigació Preclínica, Distribució de Fàrmacs i Grup d'Orientació, CIBIM-Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
0301 basic medicine, Cardiomyopathy, lcsh:Medicine, Vasculopathy, Review, Disease, 030204 cardiovascular system & hematology, Gb3, Bioinformatics, factores biológicos::biomarcadores [COMPUESTOS QUÍMICOS Y DROGAS], chemistry.chemical_compound, Metabolisme, Errors congènits del - Diagnòstic, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedad de Fabry [ENFERMEDADES], 0302 clinical medicine, Chronic kidney disease, Other subheadings::/diagnosis [Other subheadings], Medicine, terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Late-onset phenotype, late-onset phenotype, Kidney, inflammatory response, General Medicine, Enzyme replacement therapy, Phenotype, medicine.anatomical_structure, Enzims - Regulació, Marcadors bioquímics, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Fabry Disease [DISEASES], Classic phenotype, Otros calificadores::/diagnóstico [Otros calificadores], Globotriaosylceramide, lyso-Gb3, Biological Factors::Biomarkers [CHEMICALS AND DRUGS], 03 medical and health sciences, Lysosome, vasculopathy, fabry disease, Fabry disease, business.industry, lcsh:R, biomarkers, Inflammatory response, medicine.disease, 030104 developmental biology, chemistry, Lyso-gb3, business, cardiomyopathy, Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], chronic kidney disease, Biomarkers, classic phenotype
Abstract

Biomarcadores; Fenotipo clásico; Enfermedad de Fabry Biomarkers; Classic phenotype; Fabry disease Biomarcadors; Fenotip clàssic; Malaltia de Fabry Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system, resulting in clinical manifestations of the disease. Enzyme replacement therapy was shown to delay disease progression, mainly if initiated early. However, a diagnosis in the early stages represents a clinical challenge, especially in patients with a non-classic phenotype, which prompts the search for biomarkers that help detect and predict the evolution of the disease. We have reviewed the mediators involved in different pathogenic mechanisms that were studied as potential biomarkers and can be easily incorporated into clinical practice. Some accumulation biomarkers seem to be useful to detect non-classic forms of the disease and could even improve diagnosis of female patients. The combination of such biomarkers with some response biomarkers, may be useful for early detection of organ injury. The incorporation of some biomarkers into clinical practice may increase the capacity of detection compared to that currently obtained with the established diagnostic markers and provide more information on the progression and prognosis of the disease. The research has not received any external funding.

Published
2021

25. Colaboradores

Author

Audí Parera, Laura, primary, Bassas Arnau, Lluís, additional, Carmena Rodríguez, Rafael, additional, Carrascosa Lezcano, Antonio, additional, Casanueva Freijo, Felipe, additional, José Coll Rosell, M.ª, additional, Carmen Domínguez Luengo, M.ª, additional, de Salamanca Lorente, Rafael Enríquez, additional, Fernández-Tresguerres Hernández, Jesús Ángel, additional, Figuerola Pino, Daniel, additional, Gaztambide Sáenz, Sonia, additional, Luisa Girós Blasco, M.ª, additional, Goday Arnó, Alberto, additional, Gómez Sáez, José Manuel, additional, Halperin Rabinovich, Irene, additional, Hawkins Carranza, Federico, additional, Ibáñez Toda, Lourdes, additional, Lucas Martín, Anna M.ª, additional, Lucas Morante, Tomás, additional, Martínez Díaz-Guerra, Guillermo, additional, Masana Marín, Lluís, additional, Martínez de Victoria, Emilio Ortega, additional, Pedro-Botet Montoya, Juan, additional, Picó Alfonso, Antonio, additional, Pintos Morell, Guillem, additional, Puig Domingo, Manuel, additional, Reverter Calatayud, Jorge Luis, additional, Rey-Joly Barroso, Celestino, additional, Reynals de Blasis, Enrique, additional, Ribes Rubió, Antònia, additional, Ruiz, Maximino, additional, Lidia Ruiz Morosini, M.ª, additional, Salinas Vert, Isabel, additional, Serra Majem, Lluís, additional, Vázquez, Clotilde, additional, Vidal-Puig, Antonio, additional, Villabona Artero, Carlos, additional, and Webb Youdale, Susan M., additional

Published
2014
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28. Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

Author

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

Published
2021
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29. Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease

Author

Beck, Michael, primary, Ramaswami, Uma, additional, Hughes, Derralynn, additional, Kampmann, Christoph, additional, Nicholls, Kathy, additional, Niu, Dau-Ming, additional, Reisin, Ricardo, additional, Pintos-Morell, Guillem, additional, West, Michael, additional, Schenk, Joern, additional, Anagnostopoulou, Christina, additional, Botha, Jaco, additional, Jazukeviciene, Dalia, additional, and Giugliani, Roberto, additional

Published
2021
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30. Three-dimensional imaging in myotonic dystrophy type 1

Author

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

Abstract

Altres ajuts: The research of G. Nogales-Gadea, A. Ramos-Fransi, and A. Lucia is funded by Instituto de Salud Carlos III and cofinanced by Fondos FEDER. G. Nogales-Gadea is supported by a Miguel Servet research contract and by a Trampoline Grant #21108 from AFM Telethon. A. Ballester-Lopez is funded by an FI Agaur fellowship and Generalitat de Catalunya. E. Koehorst is funded by the La Caixa Foundation (ID 100010434), fellowship code LCF/BQ/IN18/11660019, cofunded by the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement no. 713673. I. Linares-Pardo is funded by CP14/00032 and SGR 1520 (GRC) Generalitat de Catalunya. J. Núñez-Manchón was funded by AFM Telethon Trampoline Grant #21108. G. Lucente was supported by a Rio Hortega contract. J. Chojnacki is supported by European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant . The funding bodies had no role in the design of the study and collection, analysis, and interpretation of data. We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG) expansion and detected RNA foci and muscleblind like 1 (MBNL1) through 3D reconstruction. We studied dystrophia myotonica protein kinase (DMPK) expression and splicing alterations of MBNL1, insulin receptor, and sarcoplasmic reticulum Ca(2+)-ATPase 1. Three-dimensional analysis showed that RNA foci (nuclear and/or cytoplasmic) were present in 45%-100% of DM1-derived myoblasts we studied (range: 0-6 foci per cell). RNA foci represented

Published
2020

31. 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

Author

Parini, Rossella, Pintos-Morell, Guillem, Hennermann, Julia B., Hsu, Ting-Rong, Karabul, Nesrin, Kalampoki, Vasiliki, Gurevich, Andrey, Ramaswami, Uma, and Universitat Autònoma de Barcelon

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, estimated glomerular filtration rate, Adolescent, Pharmaceutical Science, Renal function, Left ventricular hypertrophy, Fabry Outcome Survey, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Drug Discovery, medicine, Humans, Enzyme Replacement Therapy, Estimated glomerular filtration rate, Child, Agalsidase alfa, Original Research, Retrospective Studies, Pharmacology, agalsidase alfa, Fabry disease, Proteinuria, Drug Design, Development and Therapy, business.industry, Enzyme replacement therapy, Middle Aged, medicine.disease, Recombinant Proteins, left ventricular hypertrophy, Isoenzymes, Treatment Outcome, 030104 developmental biology, Male patient, alpha-Galactosidase, 030220 oncology & carcinogenesis, Cohort, medicine.symptom, business
Abstract

Rossella Parini,1,2 Guillem Pintos-Morell,3 Julia B Hennermann,4 Ting-Rong Hsu,5 Nesrin Karabul,6 Vasiliki Kalampoki,7 Andrey Gurevich,7 Uma Ramaswami8 On behalf of the FOS Study Group1Rare Metabolic Diseases Unit, MBBM Foundation, San Gerardo Hospital, Reference Centre for Hereditary Metabolic Disorders (MetabERN), Monza, Italy; 2TIGET Institute, IRCCS San Raffaele Hospital, Milan, Italy; 3Division of Rare Diseases, Reference Centre for Hereditary Metabolic Disorders (MetabERN), University Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona, Spain; 4Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany; 5Department of Pediatrics, Taipei Veterans General Hospital and Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan; 6Department of Neuropaediatric and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children’s Hospital and Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany; 7Shire, a Takeda company, Zurich, Switzerland; 8Royal Free London NHS Foundation Trust, London, UKCorrespondence: Rossella PariniRare Metabolic Diseases Unit, MBBM Foundation, San Gerardo Hospital, Via Pergolesi 33, Monza 20900, ItalyEmail Rossella.parini@unimib.itPurpose: To determine the impact of initiating enzyme replacement therapy (ERT) with agalsidase alfa early in the course of Fabry disease, we evaluated renal and cardiac outcomes for ≤ 10 years after ERT initiation in males from the Fabry Outcome Survey (FOS).Patients and Methods: Male patients from FOS were stratified into three cohorts by age at ERT initiation: ≤ 18 years (cohort 1), > 18 and ≤ 30 years (cohort 2), and > 30 years (cohort 3). Analysis included age at symptom onset, diagnosis, and ERT initiation; ERT duration; FOS-Mainz Severity Score Index (FOS-MSSI); estimated glomerular filtration rate (eGFR); proteinuria level; and left ventricular mass indexed to height (LVMI). Mixed-effect models estimated renal and cardiac outcomes during follow-up between and within cohorts.Findings: The analysis included 560 male patients: 151 (27.0%) in cohort 1, 155 (27.7%) in cohort 2, and 254 (45.4%) in cohort 3. Mean±SD duration of ERT for cohorts 1, 2, and 3 was 6.3± 4.3, 8.6± 4.9, and 7.9± 4.9 years, respectively. Mean±SD baseline FOS-MSSI scores increased with age from 9.8± 7.2 in cohort 1 to 24.7± 11.4 in cohort 3. Cohort 3 showed the lowest baseline mean±SD value for eGFR (87.1± 29.0 mL/min/1.73m2) and highest baseline mean±SD values for proteinuria (801.9± 952.6 mg/day) and LVMI (56.7± 16.0 g/m2.7) among the three cohorts. Evaluation of mean annual rates of change in eGFR, proteinuria, and LVMI revealed no significant differences in any parameter for cohort 1. For cohort 2, proteinuria and LVMI remained stable, whereas eGFR significantly deteriorated annually (– 1.12 mL/min/1.73m2; P< 0.001). Cohort 3 demonstrated significant annual deteriorations in eGFR (– 2.60 mL/min/1.73m2; P< 0.001), proteinuria (+34.10 mg/day; P< 0.001), and LVMI (+0.59 g/m2.7; P=0.001).Implications: Renal and/or cardiac disease progression appears attenuated in patients starting ERT in childhood or early adulthood versus patients starting ERT in later adulthood. These findings support early ERT initiation in Fabry disease. ClinicalTrials.gov identifier: NCT03289065.Keywords: agalsidase alfa, Fabry disease, enzyme replacement therapy, Fabry Outcome Survey, estimated glomerular filtration rate, left ventricular hypertrophy

Published
2020

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

Author

Ramaswami, Uma, Beck, Michael, Hughes, Derralynn, Kampmann, Christoph, Botha, Jaco, Pintos Morell, Guillem, Institut Català de la Salut, [Ramaswami U, Hughes D] Royal Free London NHS Foundation Trust, Lysosomal Disorders Unit, Institute of Immunity and Transplantation, London, UK. [Beck M, Kampmann C] Centre for Paediatric and Adolescent Medicine, University Medical Centre, University of Mainz, Mainz, Germany. [Botha J] Department of Biostatistics and Programming, Takeda, Zug, Switzerland. [Pintos-Morell G] Malalties minoritàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Research Institute and Teaching Unit Germans Trias i Pujol. Universitat Autònoma de Barcelona, Bellaterra, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Metabolisme - Trastorns, Enzims - Regulació, Cardiovascular Diseases::Vascular Diseases::Cerebrovascular Disorders::Cerebral Small Vessel Diseases::Fabry Disease [DISEASES], Malalties congènites, terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], enfermedades cardiovasculares::enfermedades vasculares::trastornos cerebrovasculares::enfermedades de los pequeños vasos cerebrales::enfermedad de Fabry [ENFERMEDADES], Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]
Abstract

Agalsidasa alfa; Teràpia de reemplaçament enzimàtic; Malaltia de Fabry Agalsidasa alfa; Terapia de reemplazo de enzimas; Enfermedad de Fabry Agalsidase alfa; Enzyme replacement therapy; Fabry disease Purpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. Patients and methods: FOS (ClinicalTrials.gov identifier: NCT03289065) data (April 2001 to August 2018) were retrospectively analyzed. Estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) were analyzed after treatment start (baseline) for patients with ≥3 measurements, including baseline and year 10. Results: Median (range) age (years) of the evaluable treated renal cohort at treatment start was 48.8 (17.9–67.3) for females (n=62), 34.4 (18.0–66.8) for males (n=90). With eGFR ≥60 mL/min/1.73 m2 at baseline, mean (95% CI) rate of eGFR change (eGFR/year) over 10 years was relatively stable in females (n=52; −0.55 [−1.12, +0.01]) and slightly declined in males (n=79; −1.99 [−2.45, −1.54]). With impaired kidney function (eGFR 48 g/m2.7 in females, >50 g/m2.7 in males) at baseline, mean (95% CI) LVMI/year slightly increased over 10 years in females (n=18; +1.51 [+0.91, +2.12]) and males (n=14; +0.87 (+0.19, +1.55). Without LVH at baseline, mean (95% CI) LVMI/year was stable in females (n=16; +0.52 [−0.13, +1.17]) and males (n=21; +0.57 [+0.02, +1.13]) over 10 years. Conclusion: Agalsidase alfa-treated patients with 10-year FOS data and preserved kidney function and/or normal LVMI at baseline remained largely stable; those with decreased kidney function or LVH at baseline experienced modest declines in renal function and/or increases in LVMI. The Fabry Outcome Survey is sponsored by Shire Human Genetic Therapies, Inc., a member of the Takeda group of companies. Shire International GmbH, a member of the Takeda group of companies, provided funding to Excel Medical Affairs for support in writing and editing this manuscript and participated in data collection and analysis.

Published
2019

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

Author

Pintos-Morell, Guillem, Blasco Alonso, Javier, Couce, Maria Luz, Gutiérrez-Solana, Luis G, Guillén-Navarro, Encarnación, O'Callaghan, Maria del Mar, del Toro, Mireia, Universitat Autònoma de Barcelona, and Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría

Subjects
0301 basic medicine, Quality of life, medicine.medical_specialty, Lysosomal storage disorder, Urinary system, MPS IVA, Mucopolysaccharidosis Type IVA, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, Elosulfase alfa, Internal medicine, Morquio A, Genetics, Medicine, In patient, Molecular Biology, lcsh:QH301-705.5, lcsh:R5-920, Walking test, business.industry, Enzyme replacement therapy, Urinary GAGs, Molecular analysis, 030104 developmental biology, chemistry, lcsh:Biology (General), business, lcsh:Medicine (General), human activities, Research Paper
Abstract

There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy was evaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were measured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life was evaluated using the EuroQoL (EQ)-5D-5 L.The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12–300 m after 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase was observed for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT in four patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VAS score, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measurements, an irregular response was observed. Our results showed overall improvement in endurance and functionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severe clinical manifestations managed in a real-world setting. Keywords: MPS IVA, Morquio A, Lysosomal storage disorder, Urinary GAGs, Elosulfase alfa, Quality of life

Published
2018

34. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Author

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Cazorla, Angeles Garcia

Published
2015
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36. Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Author

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

Published
2020
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39. The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

Author

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

Published
2020
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43. Chronic immune thrombocytopenia refractory to treatment in a patient with Gaucher disease with a common genotype

Author

Moreno-Martinez, David, primary, Segura-García, Antonio, additional, Buján-Rivas, Segundo, additional, Gubern-Prieto, Paula, additional, Sempere-González, Abiu, additional, Lucas-Del-Pozo, Sara, additional, Moltó-Abad, Marc, additional, Tigri-Santiña, Ariadna, additional, Hughes, Derralynn A., additional, and Pintos-Morell, Guillem, additional

Published
2020
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44. Extracellular vesicles increase the enzymatic activity of lysosomal proteins and improve the efficacy of enzyme replacement therapy in Fabry disease

Author

Abasolo, Ibane, primary, Seras-Franzoso, Joaquin, additional, Díaz-Riascos, Zamira Vanessa, additional, Corchero, José Luis, additional, González, Patricia, additional, García-Aranda, Natalia, additional, Mandaña, Monica, additional, Riera, Roger, additional, Boullosa, Ana, additional, Mancilla, Sandra, additional, Grayston, Alba, additional, Moltó-Abad, Marc, additional, Garcia-Fruitós, Elena, additional, Mendoza, Rosa, additional, Pintos-Morell, Guillem, additional, Albertazzi, Lorenzo, additional, Rosell, Anna, additional, Casas, Josefina, additional, Villaverde, Antonio, additional, and Schwartz, Simó, additional

Published
2020
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45. Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis

Author

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

Published
2019
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46. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

Author

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

Published
2019
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50. Recommendations for the management of tyrosinaemia type 1

Author

de Laet Corinne, Dionisi-Vici Carlo, Leonard James V, McKiernan Patrick, Mitchell Grant, Monti Lidia, de Baulny Hélène Ogier, Pintos-Morell Guillem, and Spiekerkötter Ute

Subjects
Hepatorenal tyrosinaemia, Fumarylacetoacetase, Succinylacetone, Nitisinone, Cirrhosis, Acute live failure, Hepatocellular carcinoma, Low tyrosine diet, Medicine
Abstract

Abstract The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.

Published
2013
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