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Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS—the Fabry Outcome Survey
Hughes, Derralynn A., Barba Romero, Miguel-Ángel, Hollak, Carla E.M., Giugliani, Roberto, Deegan, Patrick B.
Published in Molecular genetics and metabolism (01.07.2011)
Published in Molecular genetics and metabolism (01.07.2011)
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Journal Article
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim
Published in Molecular therapy. Methods & clinical development (12.06.2020)
Published in Molecular therapy. Methods & clinical development (12.06.2020)
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Journal Article
Screening for late-onset Pompe disease in Internal Medicine departments in Spain
López-Rodríguez, Mónica, Torralba-Cabeza, Miguel Angel, de Pedro, Iván Pérez, Rivera, Alberto, Gil, Roi Suarez, Gómez-Belda, Ana, de la Peña, Jose Luis Patier, de los Santos Moreno, Alberto, Selva-O’Callaghan, Albert, Gárate, Igor Gómez, García, Andrés González, Hurtado, Roberto, de Ureta, Pablo Tutor, Barba-Romero, Miguel Ángel, Milisenda, José C., Grau-Junyent, Josep M.
Published in Orphanet journal of rare diseases (31.08.2023)
Published in Orphanet journal of rare diseases (31.08.2023)
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Journal Article
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study
Figueroa-Bonaparte, Sebastian, Llauger, Jaume, Segovia, Sonia, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Montesinos, Paula, Sánchez-González, Javier, Alonso-Jiménez, Alicia, Gallardo, Eduard, Illa, Isabel, Díaz-Manera, Jordi
Published in Scientific reports (18.07.2018)
Published in Scientific reports (18.07.2018)
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Journal Article
Current status of the immunogenicity of enzyme replacement therapy in fabry disease
Gómez-Cerezo, Jorge F., Fernández-Martín, Julián, Barba-Romero, Miguel Ángel, Sánchez-Martínez, Rosario, Hermida-Ameijeiras, Alvaro, Camprodon-Gómez, Maria, Ortolano, Saida, Lopez-Rodriguez, Mónica A.
Published in Orphanet journal of rare diseases (26.05.2025)
Published in Orphanet journal of rare diseases (26.05.2025)
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Journal Article
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, González-Quereda, Lidia, Alonso-Pérez, Jorge, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Montiel, Elena, Segovia, Sonia, Suárez-Calvet, Xavier, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Barba-Romero, Miguel Angel, Barcena, Joseba, Paradas, Carmen, Carzorla, María Rosario, Creus, Carlota, Coll-Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Fernández-Torrón, Roberto, García-Antelo, Maria José, Grau, Josep Maria, López de Munáin, Adolfo, Martínez-García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Morís, Germán, Muñoz-Blanco, Miguel Angel, Nascimento, Andres, Parajuá-Pozo, José Luis, Querol, Luis, Rojas, Ricard, Robledo-Strauss, Arturo, Rojas-Marcos, Íñigo, Salazar, Jose António, Usón, Mercedes, Díaz-Manera, Jordi
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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Journal Article
PDGF-BB serum levels are decreased in adult onset Pompe patients
Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastián, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Segovia, Sonia, Nuñez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Díaz-Manera, Jordi
Published in Scientific reports (14.02.2019)
Published in Scientific reports (14.02.2019)
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Journal Article
Identification of serum microRNAs as potential biomarkers in Pompe disease
Carrasco‐Rozas, Ana, Fernández‐Simón, Esther, Lleixà, Maria Cinta, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nuñez‐Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, De Luna, Noemí, Suarez‐Calvet, Xavier, Illa, Isabel, Díaz‐Manera, Jordi, Gallardo, Eduard, Barba‐Romero, Miguel Angel, Barcena, Joseba, Carzorla, María Rosario, Creus, Carlota, Coll‐Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Torrón, Roberto Fernández, García Antelo, María José, Grau, Josep María, Gómez Caravaca, María Teresa, León Hernández, Juan Carlos, López de Munáin, Adolfo, Martínez‐García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Muñoz‐Blanco, Miguel Angel, Nascimento, Andres, Paradas, Carmen, Parajuá Pozo, José Luis, Querol, Luis, Robledo‐Strauss, Arturo, García, Ricard Rojas, Rojas‐Marcos, Íñigo, Salazar, Jose Antonio, Usón, Mercedes
Published in Annals of clinical and translational neurology (01.07.2019)
Published in Annals of clinical and translational neurology (01.07.2019)
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Journal Article
Supporting the patient and family with Fabry disease
Romero, Miguel-Ángel Barba, Milligan, Allan, Briva, Jordi, Basalla, Ditmar
Published in Acta Paediatrica (01.04.2007)
Published in Acta Paediatrica (01.04.2007)
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Journal Article
In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates
Gervas-Arruga, Javier, Barba-Romero, Miguel Ángel, Fernández-Martín, Jorge Julián, Gómez-Cerezo, Jorge Francisco, Segú-Vergés, Cristina, Ronzoni, Giacomo, Cebolla, Jorge J.
Published in International journal of molecular sciences (01.10.2024)
Published in International journal of molecular sciences (01.10.2024)
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Journal Article
Long-term effect of 2 intensive statin regimens on treatment and incidence of cardiovascular events in familial hypercholesterolemia: The SAFEHEART study
Pérez de Isla, Leopoldo, Arroyo-Olivares, Raquel, Muñiz-Grijalvo, Ovidio, Diaz-Díaz, José Luis, Zambón, Daniel, Fuentes, Francisco, Sánchez Muñoz-Torrero, Juan F., Mediavilla, Juan Diego, González-Estrada, Aurora, Miramontes-González, Jose Pablo, de Andrés, Raimundo, Mauri, Marta, Mosquera, Daniel, Cepeda, José M., Suárez, Lorena, Barba-Romero, Miguel Ángel, Argüeso, Rosa, Álvarez-Baños, Pilar, Michán, Alfredo, Romero-Jiménez, Manuel J., García-Cruces, Jesús, Padró, Teresa, Alonso, Rodrigo, Mata, Pedro
Published in Journal of clinical lipidology (01.11.2019)
Published in Journal of clinical lipidology (01.11.2019)
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Journal Article
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function
Figueroa-Bonaparte, Sebastián, Segovia, Sonia, Llauger, Jaume, Belmonte, Izaskun, Pedrosa, Irene, Alejaldre, Aída, Mayos, Mercè, Suárez-Cuartín, Guillermo, Gallardo, Eduard, Illa, Isabel, Díaz-Manera, Jordi
Published in PloS one (06.10.2016)
Published in PloS one (06.10.2016)
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Journal Article
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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Journal Article
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
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, Aldámiz-Echevarría, Luis
Published in Journal of pharmaceutical and biomedical analysis (30.11.2019)
Published in Journal of pharmaceutical and biomedical analysis (30.11.2019)
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Journal Article
Characterisation of plasma lipoprotein particles in spanish patients with lysosomal acid lipase deficiency (LAL-D)
Rodríguez-García, Enrique, Gil-Serret, Miriam, García-Jiménez, María Concepción, González-Diéguez, María Luisa, Del Valle Loarte, Pablo, Barba-Romero, Miguel Angel, Gil-Ortega, David, Bernal-López, Rosa, Amigó, Nuria, Yahyaoui, Raquel
Published in Atherosclerosis (01.08.2017)
Published in Atherosclerosis (01.08.2017)
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Journal Article
Dried blood spot screening of lysosomal acid lipase deficiency and confirmatory studies in Spanish suspected patients
Cebolla, Jorge J., Irun, Pilar, Gonzalez-Dieguez, Luisa, del Valle Loarte, Pablo, Barba-Romero, Miguel Angel, Garcia-Jimenez, Inmaculada, Ros Arnal, Ignacio, Giraldo, Pilar
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS)
Barba Romero, Miguel Angel, Rivera Gallego, Alberto, Pintos Morell, Guillem
Published in International journal of clinical practice (Esher) (01.08.2011)
Published in International journal of clinical practice (Esher) (01.08.2011)
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Journal Article
Routes to diagnosis of Fabry disease according to patient age and geographic distribution
Ramaswami, Uma, Torras, Joan, Cybulla, Markus, Romero, Miguel-Ángel Barba, Gurevich, Andrey, Kalampoki, Vasiliki, West, Michael L.
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Menarche, menopause, and pregnancy data in untreated females and females treated with agalsidase alfa in the Fabry Outcome Survey
Hughes, Derralynn, Romero, Miguel-Ángel Barba, Gurevich, Andrey, Engrand, Patrick, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article