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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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
Navarro-Romero, Alba, Fernandez-Gonzalez, Irene, Riera, Jordi, Montpeyo, Marta, Albert-Bayo, Merce, Lopez-Royo, Tresa, Castillo-Sanchez, Pablo, Carnicer-Caceres, Clara, Arranz-Amo, Jose Antonio, Castillo-Ribelles, Laura, Pradas, Eddie, Casas, Josefina, Vila, Miquel, Martinez-Vicente, Marta
Published in NPJ Parkinson's Disease (06.10.2022)
Published in NPJ Parkinson's Disease (06.10.2022)
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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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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Martín-Nalda, Andrea, Rivière, Jacques G., Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere
Published in International journal of neonatal screening (01.12.2021)
Published in International journal of neonatal screening (01.12.2021)
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Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases
Sabaté Rotés, Anna, Del Toro Riera, Mireia, Albert Brotons, Dimpna C, Arranz Amo, José Antonio, Carrascosa Lezcano, Antonio, Girona Comas, Josep
Published in Medicina clinica (19.11.2011)
Published in Medicina clinica (19.11.2011)
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Bone disease in eliglustat treated Gaucher disease type 1 patients: A real-world experience in a tertiary referral hospital
Valls-Villalba, Àngel, Camprodon-Gómez, Maria, Moreno-Martinez, Daniel, Hernandez-Vara, Jorge, Arranz-Amo, Jose Antonio, Carnicer-Caceres, Clara
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Evaluation of a Liquid Chromatography–Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson’s Disease Patients
Castillo-Ribelles, Laura, Arranz-Amo, Jose Antonio, Hernández-Vara, Jorge, Samaniego-Toro, Daniela, Enriquez-Calzada, Silvia, Pozo, Sara Lucas-Del, Camprodon-Gomez, Maria, Laguna, Ariadna, Gonzalo, Mercedes Arrúe, Ferrer, Roser, Martinez-Vicente, Marta, Carnicer-Caceres, Clara
Published in Analytical chemistry (Washington) (06.08.2024)
Published in Analytical chemistry (Washington) (06.08.2024)
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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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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Martín-Nalda, Andrea, Rivière, Jacques G, Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere
Published in International journal of neonatal screening (29.09.2021)
Published in International journal of neonatal screening (29.09.2021)
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