Galactosialidosis: nueva mutación de novo en el gen CTSA en un paciente afecto de la forma infantil tardía von García Hernández, Lara, Sierra Sirvent, Javier, Gort Mas, Laura, Coll Roseli, María J

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SP005SCREENING OF FABRY DESEASE IN RISK POPULATION von Ugalde, Jessica, Coll, Maria Jose, Gort Mas, Laura, Reinoso, Johana, Yague, Jordi, Poch, Esteban, Torregrosa, Jose Vicente

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Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis von García Hernández, Lara, Sierra Sirvent, Javier, Gort Mas, Laura, Coll Roseli, María J

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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... von González-Lamuño Leguina, Domingo, Gort Mas, Laura, Morales Conejo, Montserrat, Unceta Suarez, Maria, Bóveda Fontán, María Dolores, Bueno Delgado, M.A

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Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome von Benetó, Noelia, Cozar, Mónica, Gort i Mas, Laura, Pacheco, Laura, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl, Canals Montferrer, Isaac

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Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients von Alvarez Mora, Maria Isabel, Garrabou Tornos, Glòria, Barcos Rodríguez, Tamara, Garcia-Garcia, Francisco, Grillo Risco, Ruben, Peruga, Emma, Gort i Mas, Laura, Borrego Écija, Sergi, Sanchez-Valle, Raquel, Cantó Santos, Judith, Navarro Navarro, Paula, Rodriguez Revenga, Laia

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50 años del programa de cribado neonatal en Cataluña von 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

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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 von Ponsati Obiols, Berta, Ribes Rubió, Antonia, Pascual Martínez, Roberto, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio

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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 von FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PONSATI OBIOLS, BERTA, RIBES RUBIO, ANTONIA, PASCUAL MARTINEZ, ROBERTO

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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 von FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PONSATI OBIOLS, BERTA, RIBES RUBIO, ANTONIA, PASCUAL MARTINEZ, ROBERTO

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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 von Ponsati Obiols, Berta, Ribes Rubió, Antonia, Pascual Martínez, Roberto, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio

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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 von PASCUAL MARTÍNEZ, Roberto, PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura

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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 von Pascual Martinez, Roberto, Ponsati Obiols, Berta, Ribes Rubio, Antonia, Matalonga Borrel, Leslie, Farrera-Sinfreu, Josep, Gort Mas, Laura, Ferrer Montiel, Antonio

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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 von FARRERA-SINFREU, JOSEP, GORT MAS, LAURA, MATALONGA BORREL, LESLIE, FERRER MONTIEL, ANTONIO, PASCUAL MARTÍNEZ, ROBERTO, PONSATI OBIOLS, BERTA, RIBES RUBIÓ, ANTONIA

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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 von PONSATI OBIOLS, Berta, PASCUAL MARTINEZ, Roberto, RIBES RUBIO, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura

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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 von LESLIE MATALONGA BORREL, BERTA PONSATI OBIOLS, JOSEP FARRERA-SINFREU, LAURA GORT MAS, ANTONIA RIBES RUBIÓ, ROBERTO PASCUAL MARTÍNEZ, ANTONIO FERRER MONTIEL

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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 von PONSATI OBIOLS, Berta, PASCUAL MARTINEZ, Roberto, RIBES RUBIO, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura

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BICALUTAMID ANALOGER ELLER (S)-BICALUTAMID SOM EXOCYTOSE AKTIVERENDE FORBINDELSER TIL BRUG I BEHANDLING AF LYSOSOMAL LAGRINGSSYGDOM ELLER GLYCOGENOSE von PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, PASCUAL MARTÍNEZ, Roberto, FERRER MONTIEL, Antonio, Farrera-Sinfreu, Josep, GORT MAS, Laura

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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 von PASCUAL MARTÍNEZ, Roberto, PONSATI OBIOLS, Berta, RIBES RUBIÓ, Antonia, MATALONGA BORREL, Leslie, FERRER MONTIEL, Antonio, FARRERA-SINFREU, Josep, GORT MAS, Laura

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Anàlisi molecular de la mucopolisacaridosi I, la mucopolisacaridosi II i la leucodistròfia metacromàtica en els pacients espanyols von Gort i Mas, Laura

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