Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Stepien, Karolina M, Gevorkyan, Anait K, Hendriksz, Christian J, Lobzhanidze, Tinatin V, Pérez-López, Jordi, Tol, Govind, Del Toro Riera, Mireia, Vashakmadze, Nato D, Lampe, Christina
Published in Orphanet journal of rare diseases (14.05.2020)
Published in Orphanet journal of rare diseases (14.05.2020)
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Journal Article
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives
Tumienė, Birutė, Del Toro Riera, Mireia, Grikiniene, Jurgita, Samaitiene-Aleknienė, Rūta, Praninskienė, Rūta, Monavari, Ahmad Ardeshir, Sykut-Cegielska, Jolanta
Published in Journal of multidisciplinary healthcare (01.01.2022)
Published in Journal of multidisciplinary healthcare (01.01.2022)
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Journal Article
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
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-Riera, Mireia, Pintos-Morell, Guillem
Published in Journal of clinical medicine (13.04.2021)
Published in Journal of clinical medicine (13.04.2021)
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Journal Article
Implementación de programas de transición de la adolescencia a la edad adulta
Moreno-Galdó, Antonio, Regné Alegret, Maria Creu, Aceituno López, María Angeles, Camprodón-Gómez, María, Martí Beltran, Sergi, Lara Fernández, Roser, del-Toro-Riera, Mireia
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2023)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.12.2023)
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Journal Article
Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C
Roch Santed, Maria, Cabañas Poy, Maria Josep, Del Toro Riera, Mireia, Cañete Ramírez, Carme, Fernández Polo, Aurora, Clemente Bautista, Susana
Published in European journal of hospital pharmacy : science and practice (01.05.2017)
Published in European journal of hospital pharmacy : science and practice (01.05.2017)
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Journal Article
Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)
Camprodon-Gomez, Maria, Valls-Villalba, Àngel, Riera, Mireia Del Toro
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
61th Congress of the SEFH. Top five clinical cases
Santed, María Roch, Poy, María Josep Cabañas, Ramírez, Carme Cañete, Polo, Aurora Fernández, Riera, Mireia Del Toro, Bautista, Susana Clemente
Published in Farmacia hospitalaria (01.05.2017)
Published in Farmacia hospitalaria (01.05.2017)
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Journal Article
Diagnostic strategies for hydrocephalus detection in MPS patients
De Miguel, Lucy Dougherty, Camprodon-Gomez, Maria, Alvarez, Ignacio Delgado, Felipe, Ana, Poca, M.A., Peccorini, Ana Gabriela Lungo, Riera, Mireia Del Toro
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)
Adang, Laura A., Malanga, C.J., Burton, Barbara K., Giugliani, Roberto, Groeschel, Samuel, Inbar-Feigenberg, Michal, Sevin, Caroline, Riera, Mireia Del Toro, Yin, Shaoming, Rathmann, Suchitrita, Whiteman, David A.H., Vanderver, Adeline
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Implementation of programmes for the transition of adolescents to adult care
Moreno-Galdó, Antonio, Regné-Alegret, Maria Creu, Aceituno-López, María Angeles, Camprodón-Gómez, María, Martí-Beltran, Sergi, Lara-Fernández, Roser, Del-Toro-Riera, Mireia
Published in Anales de Pediatría (01.12.2023)
Published in Anales de Pediatría (01.12.2023)
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Journal Article
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital
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, Arranz-Amo, Jose Antonio
Published in Blood cells, molecules, & diseases (01.01.2023)
Published in Blood cells, molecules, & diseases (01.01.2023)
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Journal Article
Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ
Felipe Rucián, Ana, Macaya Ruiz, Alfons, del Toro Riera, Mireia, Girós, M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular
del Toro Riera, Mireia, Macaya Ruiz, Alfons, Raspall Chaure, Miquel, Tallada Serra, Mercè, Pasqual López, Isabel, Roig Quilis, Manel
Published in Revista de neurologiá (2006)
Published in Revista de neurologiá (2006)
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Journal Article
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura, Paula Sol, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Seuma, Agustí Rodríguez-Palmero, del Mar Martínez-Colls, Maria, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, del Toro Riera, Mireia, Felipe-Rucián, Ana, Giralt-López, Maria, Cortès-Saladelafont, Elisenda
Published in Molecular genetics and metabolism reports (01.06.2023)
Published in Molecular genetics and metabolism reports (01.06.2023)
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Journal Article
Research activity and capability in the European reference network MetabERN
Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (29.05.2019)
Published in Orphanet journal of rare diseases (29.05.2019)
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Journal Article
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Implementation of programmes for the transition of adolescents to adult care
Antonio Moreno-Galdó, Maria Creu Regné-Alegret, María Angeles Aceituno-López, María Camprodón-Gómez, Sergi Martí-Beltran, Roser Lara-Fernández, Mireia del-Toro-Riera
Published in Anales de Pediatría (01.12.2023)
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Published in Anales de Pediatría (01.12.2023)
Journal Article
Clinical variability of polymicrogiria: report of 35 new cases and review of the literature
Flotats-Bastardas, Marina, Sánchez-Montañez, Ángel, Vázquez-Méndez, Elida, Ortega-Aznar, Arantxa, Boronat-Guerrero, Susanna, Raspall-Chaure, Miquel, del Toro-Riera, Mireia, Munell, Francina, Macaya-Ruiz, Alfons, Roig-Quilis, Manuel
Published in Revista de neurologiá (16.09.2012)
Published in Revista de neurologiá (16.09.2012)
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