Ornithine phenylacetate prevents disturbances of motor-evoked potentials induced by intestinal blood in rats with portacaval anastomosis
Oria, Marc, Romero-Giménez, Jordi, Arranz, José Antonio, Riudor, Encarnació, Raguer, Núria, Córdoba, Juan
Published in Journal of hepatology (01.01.2012)
Published in Journal of hepatology (01.01.2012)
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Impact of ornithine phenylacetate (OCR-002) in lowering plasma ammonia after upper gastrointestinal bleeding in cirrhotic patients
Ventura-Cots, Meritxell, Concepción, Mar, Arranz, José Antonio, Simón-Talero, Macarena, Torrens, Maria, Blanco-Grau, Albert, Fuentes, Inma, Suñé, Pilar, Alvarado-Tapias, Edilmar, Gely, Cristina, Roman, Eva, Mínguez, Beatriz, Soriano, German, Genescà, Joan, Córdoba, Juan
Published in Therapeutic advances in gastroenterology (01.11.2016)
Published in Therapeutic advances in gastroenterology (01.11.2016)
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A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
Navarro-Sastre, Aleix, Tort, Frederic, Stehling, Oliver, Uzarska, Marta A., Arranz, José Antonio, del Toro, Mireia, Labayru, M. Teresa, Landa, Joseba, Font, Aida, Garcia-Villoria, Judit, Merinero, Begoña, Ugarte, Magdalena, Gutierrez-Solana, Luis Gonzalez, Campistol, Jaume, Garcia-Cazorla, Angels, Vaquerizo, Julian, Riudor, Encarnació, Briones, Paz, Elpeleg, Orly, Ribes, Antonia, Lill, Roland
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Journal Article
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Ferrer-Cortès, Xènia, Narbona, Juan, Bujan, Núria, Matalonga, Leslie, Del Toro, Mireia, Arranz, José Antonio, Riudor, Encarnació, Garcia-Cazorla, Angels, Jou, Cristina, O'Callaghan, Mar, Pineda, Mercé, Montero, Raquel, Arias, Angela, García-Villoria, Judit, Alston, Charlotte L, Taylor, Robert W, Briones, Paz, Ribes, Antonia, Tort, Frederic
Published in Mitochondrion (01.01.2016)
Published in Mitochondrion (01.01.2016)
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Journal Article
Leigh syndrome associated with TRMU gene mutations
Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Motor‐evoked potentials in awake rats are a valid method of assessing hepatic encephalopathy and of studying its pathogenesis
Oria, Marc, Chatauret, Nicolas, Chavarria, Laia, Romero‐Giménez, Jordi, Palenzuela, Lluis, Pardo‐Yules, Benjamin, Arranz, José Antonio, Bodega, Guillermo, Raguer, Núria, Córdoba, Juan
Published in Hepatology (Baltimore, Md.) (01.12.2010)
Published in Hepatology (Baltimore, Md.) (01.12.2010)
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Journal Article
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ãngeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Published in Orphanet journal of rare diseases (30.04.2021)
Published in Orphanet journal of rare diseases (30.04.2021)
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Journal Article
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Published in Orphanet journal of rare diseases (13.07.2023)
Published in Orphanet journal of rare diseases (13.07.2023)
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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
Ferrer-Cortès, Xènia, Font, Aida, Bujan, Núria, Navarro-Sastre, Aleix, Matalonga, Leslie, Arranz, José Antonio, Riudor, Encarnació, del Toro, Mireia, Garcia-Cazorla, Angels, Campistol, Jaume, Briones, Paz, Ribes, Antonia, Tort, Frederic
Published in Journal of inherited metabolic disease (01.09.2013)
Published in Journal of inherited metabolic disease (01.09.2013)
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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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Hyperlactatemia and in utero exposure to antiretrovirals: is the control group the clue?
Soler-Palacín, Pere, Martín-Nalda, Andrea, Martínez-Gómez, Xavier, Melendo, Susana, Riudor, Encarnació, Arranz, Jose Antonio, Espiau, Maria, Figueras, Concepció
Published in AIDS research and human retroviruses (01.08.2012)
Published in AIDS research and human retroviruses (01.08.2012)
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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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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
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
del Toro, Mireia, Arranz, José Antonio, Macaya, Alfons, Riudor, Encarnació, Raspall, Miquel, Moreno, Antonio, Vazquez, Elida, Ortega, Arancha, Matsubara, Yoichi, Kure, Shigeo, Roig, Manuel
Published in Annals of neurology (01.07.2006)
Published in Annals of neurology (01.07.2006)
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Journal Article
Glycogen Storage Disease Type III with Hypoketosis
Clemente, Mara, Gussinyer, Miquel, Arranz, Jos Antonio, Riudor, Encarnaci, Yeste, Diego, Albisu, Marian, Carrascosa, Antonio
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2010)
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2010)
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X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, J A, Tejada, Mi, Pérez-Jurado, L A, Estivill, X, Milà, M
Published in BMC genomics (29.11.2007)
Published in BMC genomics (29.11.2007)
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Journal Article
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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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)
Journal Article
Implementation of second-tier tests in newborn screening for the detection of vitamin B 12 related acquired and genetic disorders: results on 258,637 newborns
Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia
Published in Orphanet journal of rare diseases (30.04.2021)
Published in Orphanet journal of rare diseases (30.04.2021)
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Journal Article
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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