Browsing by Author García Villoria, Judit
Showing results 1 to 10 of 10
| Issue Date | Title | Author(s) |
|---|---|---|
| 6-Oct-2023 | Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme | Pajares García, Sonia; González de Aledo-Castillo, José Manuel; Flores Jiménez, José Eduardo; Collado, Tatiana; Pérez, Judit; Paredes Fuentes, Abraham José; Argudo Ramírez, Ana; López Galera, Rosa Ma.; Prats, Blanca; García Villoria, Judit |
| 30-Sep-2016 | Apo AIV and citrulline plasma concentrations in Short Bowel Syndrome patients: the influence of Short Bowel Anatomy | López Tejero, M. Dolores; Virgili, Núria; Targarona i Pujolà, Jordi; Ruiz, Jorge; Garcia Giralt, Natàlia; Oró Bozzini, Denise; García Villoria, Judit; Creus, Gloria; Pita, Anna M. |
| 6-Oct-2016 | Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa (MHBD o HSD10) e implicaciones en la enfermedad de Alzheimer | García Villoria, Judit |
| 15-Oct-2022 | Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency. | Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia |
| 11-Jun-2010 | Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites | Serra Pérez, Anna; Planas Obradors, Anna Maria; Núñez-O'Mara, Analía; Berra, Edurne; García Villoria, Judit; Ribes Rubió, Maria Antònia; Santalucía Albi, Tomàs |
| 23-May-2014 | Fatty acid transport protein 1 (FATP1) delivered into skeletal muscle localizes in mitochondria and regulates lipid and ketone body disposal | Guitart de la Rosa, Maria; Osorio Conles, Óscar; Pentinat Pelegrin, Thais; Cebrià, Judith; García Villoria, Judit; Sala Cano, David; Sebastián Muñoz, David; Zorzano Olarte, Antonio; Ribes Rubió, Maria Antònia; Jiménez Chillarón, José Carlos; García Martínez, Celia; Gómez Foix, Anna Maria |
| 1-Aug-2023 | Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations | Arrabal, L.; Muñoz Pujol, G.; Medina Martínez, I.; Gort, L.; García Villoria, Judit; Roldán, S.; Tort, F.; Ribes, A. |
| 2-Feb-2018 | Ghrelin causes a decline in GABA release by reducing fatty acid oxidation in cortex | Mir Bonnín, Joan Francesc; Zagmutt Caroxa, Sebastián; Lichtenstein, Mathieu P.; García Villoria, Judit; Weber Blattes, Minéia; Gracia, Ana; Fabriàs Domingo, Gemma; Casas Brugulat, Josefina; López, Miguel; Casals i Farré, Núria; Ribes Rubió, Maria Antònia; Suñol, Cristina; Herrero Rodríguez, Laura; Serra i Cucurull, Dolors |
| 1-Jan-2024 | Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement. | Mateu Bosch, Anna; Segur-Bailach, Eulalia; García Villoria, Judit; Gea Sorli, Sabrina; Ruiz, I.; Rey Calero, Juan del; Camps, Jordi; Guitart Mampel, Mariona; Garrabou Tornos, Glòria; Tort, Frederic; Ribes, A.; Fillat i Fonts, Cristina |
| 26-Mar-2020 | Physiopathological bases of the disease caused by HACE1 mutations: alterations in autophagy, mitophagy and oxidative stress response | Ugarteburu López, Olatz; Sánchez-Vilés, Marta; Ramos, Julio; Barcos Rodríguez, Tamara; Garrabou Tornos, Glòria; García Villoria, Judit; Ribes Rubió, Maria Antònia; Tort, Frederic |