Medicina interna y enfermedades raras. Transición niño-adulto

by Francesc Cardellach, Antònia Ribes
Published 2018-09-01

Physiopathological Bases of the Disease Caused by <i>HACE1</i> Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

by Olatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, Tamara Barcos-Rodríguez, Gloria Garrabou, Judit García-Villoria, Antonia Ribes, Frederic Tort
Published 2020-03-01

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

by Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Javier de las Heras, Marisa Girós, Maria J. Coll, Antonia Ribes
Published 2015-10-01

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

by Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Published 2016-01-01

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

by Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac Canals
Published 2020-02-01

Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal.

by Maria Guitart, Oscar Osorio-Conles, Thais Pentinat, Judith Cebrià, Judit García-Villoria, David Sala, David Sebastián, Antonio Zorzano, Antonia Ribes, Josep C Jiménez-Chillarón, Celia García-Martínez, Anna M Gómez-Foix
Published 2014-01-01

Newborn Screening for SCID: Experience in Spain (Catalonia)

by Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín
Published 2021-07-01

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

by Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín
Published 2019-10-01

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

by Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Published 2021-04-01

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

by Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Published 2019-01-01

<i>ADCK2</i> Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

by Luis Vázquez-Fonseca, Jochen Schäefer, Ignacio Navas-Enamorado, Carlos Santos-Ocaña, Juan D. Hernández-Camacho, Ignacio Guerra, María V. Cascajo, Ana Sánchez-Cuesta, Zoltan Horvath, Emilio Siendones, Cristina Jou, Mercedes Casado, Purificación Gutierrez-Rios, Gloria Brea-Calvo, Guillermo López-Lluch, Daniel J.M. Fernández-Ayala, Ana B. Cortés, Juan C. Rodríguez-Aguilera, Cristiane Matté, Antonia Ribes, Sandra Y. Prieto-Soler, Eduardo Dominguez-del-Toro, Andrea di Francesco, Miguel A. Aon, Michel Bernier, Leonardo Salviati, Rafael Artuch, Rafael de Cabo, Sandra Jackson, Plácido Navas
Published 2019-09-01