Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

por Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Publicado 2015

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

por Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia
Publicado 2023

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

por Ugarteburu, Olatz, Sánchez-Vilés, Marta, Ramos, Julio, Barcos-Rodríguez, Tamara, Garrabou, Gloria, García-Villoria, Judit, Ribes, Antonia, Tort, Frederic
Publicado 2020

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease

por Segur-Bailach, Eulàlia, Ugarteburu, Olatz, Tort, Frederic, Texido, Laura, Painous, Celia, Compta, Yaroslau, Martí, Maria José, Ribes, Antonia, Gort, Laura
Publicado 2022

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

por Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Publicado 2016

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

por Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan
Publicado 2010

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

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

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

por Muñoz-Pujol, Gerard, Alforja-Castiella, Socorro, Casaroli-Marano, Ricardo, Morales-Romero, Blai, García-Villoria, Judit, Yépez, Vicente A., Gagneur, Julien, Gusic, Mirjana, Prokisch, Holger, Tort, Frederic, Ribes, Antonia
Publicado 2022

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

por Fogh, Sarah, Dipace, Graziana, Bie, Anne, Veiga‐da‐Cunha, Maria, Hansen, Jakob, Kjeldsen, Margrethe, Mosegaard, Signe, Ribes, Antonia, Gregersen, Niels, Aagaard, Lars, Van Schaftingen, Emile, Olsen, Rikke K. J.
Publicado 2021

Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal

por Guitart, Maria, Osorio-Conles, Óscar, Pentinat, Thais, Cebrià, Judith, García-Villoria, Judit, Sala, David, Sebastián, David, Zorzano, Antonio, Ribes, Antonia, Jiménez-Chillarón, Josep C., García-Martínez, Celia, Gómez-Foix, Anna M.
Publicado 2014

Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex

por Mir, Joan Francesc, Zagmutt, Sebastián, Lichtenstein, Mathieu P, García-Villoria, Judit, Weber, Minéia, Gracia, Ana, Fabriàs, Gemma, Casas, Josefina, López, Miguel, Casals, Núria, Ribes, Antònia, Suñol, Cristina, Herrero, Laura, Serra, Dolors
Publicado 2018

Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

por Hernández-Camacho, Juan Diego, Fernández-Ayala, Daniel J. M., Vicente-García, Cristina, Navas-Enamorado, Ignacio, López-Lluch, Guillermo, Oliva, Clara, Artuch, Rafael, Garcia-Villoria, Judith, Ribes, Antonia, de Cabo, Rafael, Carvajal, Jaime J., Navas, Plácido
Publicado 2022

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

por Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo
Publicado 2013

Newborn Screening for SCID. Experience in Spain (Catalonia)

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

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

por Muñoz‐Pujol, Gerard, Ortigoza‐Escobar, Juan D., Paredes‐Fuentes, Abraham J., Jou, Cristina, Ugarteburu, Olatz, Gort, Laura, Yubero, Delia, García‐Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi, Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic
Publicado 2022

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

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

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

por 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
Publicado 2023

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

por 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
Publicado 2021

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

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

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

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