SP005SCREENING OF FABRY DESEASE IN RISK POPULATION
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Published in Nephrology, dialysis, transplantation (01.05.2018)
Published in Nephrology, dialysis, transplantation (01.05.2018)
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El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión: Perspectiva desde la asociación española para el estudio de los errores congénitos del metabolismo (AECOM)
González-Lamuño Leguina, Domingo, Gort Mas, Laura, Morales Conejo, Montserrat, Unceta Suarez, Maria, Bóveda Fontán, María Dolores, Bueno Delgado, M.A
Published in Revista española de salud pública (2021)
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Published in Revista española de salud pública (2021)
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50 años del programa de cribado neonatal en Cataluña
Martínez Gallo, Mònica, Mañú Pereira, María del Mar, Fernández Bardon, Rosa Mª, Tazón, Barbara, Casals Senent, Teresa, Murillo Sanjuán, Laura, Colobran Oriol, Roger, Clemente León, María, Gort Mas, Laura, Costa Colomer, Jordi, Ortuño Cabrero, Ana, García Villoria, Judit, Hernandez Pérez, Jose Mª, Jané Checa, Mireia, Sierra March, Cristina, Navarro Sastre, Aleix, Soler Palacín, Pere, Pajares García, Sonia, Rovira Amigo, Sandra, García Volpe, C, de los Santos Mercedes, M, Campos Martorell, Ariadna, Ferrer, R, Cols Roig, María, Ribes Rubió, Antònia, Murciano, Thais, Mogas Viñals, Eduardo, Parra Martínez, Alba, Marín Soria, José Luis, Beneitez Pastor, David, López Galera, Rosa María, González de Aledo Castillo, Jose Manuel, Gartner, Silvia, Carnicer Cáceres, Clara, Arranz, José Antonio, García González, Miguel, Roué, Gaël, Argudo Ramírez, Ana, Rivière, Jacques G, Prats, Blanca, García Cazorla, Ángels, Toro Riera, M. del, Velasco Puyó, Pablo, Artuch Iriberri, Rafael, Blanco Álvarez, Adoración, Yeste Fernández, Diego, Díaz de Heredia Rubio, C, Meavilla Olivas, S, Ruiz Hernández, Carlos José, Armelles Sebastia, Mercedes, Martín Nalda, Andrea, Vives Corrons, Joan Lluís, Cabezas Peña, Carmen, Badenas, Cèlia, Ormazabal Herrero, Aida, Campistol Plana, Jaume, Asso Ministral, Laia, Asensio de la Cruz, Óscar, Vidal Benede, Mª José, Giralt Arnaiz, Marina
Published in Revista española de salud pública (2020)
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Published in Revista española de salud pública (2020)
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The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).
González-Lamuño Leguina, Domingo, Bóveda Fontán, Mª Dolores, Bueno Delgado, María, Gort Mas, Laura, Unceta Suárez, María, Morales Conejo, Montserrat
Published in Revista espanola de salud publica (26.01.2021)
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Published in Revista espanola de salud publica (26.01.2021)
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Bicalutamide analogs or (S)-bicalutamide as exocytosis activating compounds for use in the treatment of a lysosomal storage disorder or glycogenosis
Ponsati Obiols, Berta, Ribes Rubió, Antonia, Pascual Martínez, Roberto, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio
Year of Publication 07.02.2023
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Year of Publication 07.02.2023
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50 years of the Neonatal Screening Program in Catalonia.
Marín Soria, Jose Luis, López Galera, Rosa Mª, Argudo Ramírez, Ana, González de Aledo, Jose Manuel, Pajares García, Sonia, Navarro Sastre, Aleix, Hernandez Pérez, Jose Mª, Ribes Rubio, Antonia, Gort Mas, Laura, García Villoria, Judit, Gartner Tizano, Silvia, Rovira Amigo, Sandra, Asensio de la Cruz, Oscar, García González, Miguel, Cols Roig, María, Costa Colomer, Jordi, Bádenas Orquin, Celia, Yeste Fernández, Diego, Campos Martorell, Ariadna, Clemente León, María, Mogas Viñals, Eduardo, Ferrer Costa, Roser, Giralt Arnaiz, Marina, Campistol Plana, Jaume, García Cazorla, Ángeles, Beneitez Pastor, David, Ortuño Cabrero, Ana, Blanco Álvarez, Adoración, Tazón Vega, Barbara, Roué, Gael, Velasco Puyo, Pablo, Murciano Carrillo, Thais, Murillo Sanjuan, Laura, Díaz de Heredia Rubio, Cristina, Mañú Pereira, Mª Del Mar, Vives Corrons, Josep Lluis, Arranz Amo, José Antonio, Carnicer Cáceres, Clara, Del Toro Riera, Mireia, Ormazábal Herrero, Aida, Artuch Iriberri, Rafael, García-Volpe, Camila, de Los Santos, Mariela Mercedes, Sierra March, Cristina, Ruiz Hernández, Carlos José, Meavilla Olivas, Silvia Mª, Martín Nalda, Andrea, Rivière, Jacques G, Parra Martínez, Alba, Soler Palacín, Pere, Martínez Gallo, Mónica, Colobran, Roger, Casals Senent, Teresa, Armelles Sebastia, Mercè, Vidal Benede, Mª José, Jané Checa, Mireia, Fernández Bordón, Rosa Mª, Asso Ministral, Laia, Prats Viedma, Blanca, Cabezas Peña, Carmen
Published in Revista espanola de salud publica (16.12.2020)
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Published in Revista espanola de salud publica (16.12.2020)
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PONSATI OBIOLS, BERTA, RIBES RUBIO, ANTONIA, PASCUAL MARTINEZ, ROBERTO
Year of Publication 27.04.2021
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Year of Publication 27.04.2021
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PONSATI OBIOLS, BERTA, RIBES RUBIO, ANTONIA, PASCUAL MARTINEZ, ROBERTO
Year of Publication 05.02.2021
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Year of Publication 05.02.2021
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Bicalutamide analogs or (s)-bicalutamide as exocytosis activating compounds for use in the treatment of a lysosomal storage disorder or glycogenosis
Ponsati Obiols, Berta, Ribes Rubió, Antonia, Pascual Martínez, Roberto, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio
Year of Publication 24.04.2020
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Year of Publication 24.04.2020
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
PASCUAL MARTÍNEZ, Roberto, PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura
Year of Publication 16.10.2019
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Year of Publication 16.10.2019
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Bicalutamide analogs or (S)-bicalutamide as exocytosis activating compounds for use in the treatment of a lysosomal storage disorder or glycogenosis
Pascual Martinez, Roberto, Ponsati Obiols, Berta, Ribes Rubio, Antonia, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio
Year of Publication 03.10.2019
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Year of Publication 03.10.2019
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PASCUAL MARTÍNEZ, ROBERTO, PONSATI OBIOLS, BERTA, RIBES RUBIÓ, ANTONIA
Year of Publication 30.09.2019
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Year of Publication 30.09.2019
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
PONSATI OBIOLS, Berta, PASCUAL MARTINEZ, Roberto, RIBES RUBIO, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura
Year of Publication 30.09.2019
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Year of Publication 30.09.2019
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
LESLIE MATALONGA BORREL, BERTA PONSATI OBIOLS, JOSEP FARRERA-SINFREU, LAURA GORT MAS, ANTONIA RIBES RUBIÓ, ROBERTO PASCUAL MARTÍNEZ, ANTONIO FERRER MONTIEL
Year of Publication 27.06.2019
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Year of Publication 27.06.2019
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
PONSATI OBIOLS, Berta, PASCUAL MARTINEZ, Roberto, RIBES RUBIO, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura
Year of Publication 25.06.2019
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Year of Publication 25.06.2019
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BICALUTAMID ANALOGER ELLER (S)-BICALUTAMID SOM EXOCYTOSE AKTIVERENDE FORBINDELSER TIL BRUG I BEHANDLING AF LYSOSOMAL LAGRINGSSYGDOM ELLER GLYCOGENOSE
PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, PASCUAL MARTÃNEZ, Roberto, FERRER MONTIEL, Antonio, Farrera-Sinfreu, Josep, GORT MAS, Laura
Year of Publication 17.06.2019
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Year of Publication 17.06.2019
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BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
PASCUAL MARTÍNEZ, Roberto, PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura
Year of Publication 27.03.2019
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Year of Publication 27.03.2019
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Análogos de bicalutamida o (s)- bicalutamida como compuestos activadores de la exocitosis para su uso en el tratamiento de un desorden de acúmulo lisosomal o glucogenosis
FARRERA-SINFREU JOSEP, FERRER MONTIEL ANTONIO, RIBES RUBIO ANTONIO, PONSATI OBIOLS BERTA, MATALONGA BORREL LESLIE, PASCUAL MARTINEZ ROBERTO, GORT MAS LAURA
Year of Publication 16.12.2016
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Year of Publication 16.12.2016
Patent