Browsing by Author Paredes Fuentes, Abraham José
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes Fuentes, Abraham José; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| 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 |
| Mar-2020 | Coenzyme Q10 deficiencies: a group of potentially treatable mitochondrial diseases | Paredes Fuentes, Abraham José |
| 2-Nov-2020 | Efficient muscle distribution reflects the positive influence of coenzyme Q10 Phytosome in healthy aging athletes after stressing exercise | Drobnic, F.; Riera Riera, Joan; Artuch Iriberri, Rafael; Jou, Cristina; Codina, Anna; Montero, Raquel; Paredes Fuentes, Abraham José; Domingo i Pedrol, Joan Carles; Banquells, Montserrat; Riva, Antonella; Allegrini, Pietro; Petrangolini, Giovanna; Togni, Stefano |
| 1-Dec-2022 | Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10 | Paredes Fuentes, Abraham José |
| 20-May-2024 | Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy | Launay, Nathalie; López Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schlüter, Agatha; Fourcade, Stéphane; Paredes Fuentes, Abraham José; Artuch, Rafael; Casasnovas Pons, Carlos; Ruiz Sales, Montserrat; Pujol, Aurora, 1968- |
| 30-Nov-2022 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency | Muñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham José; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol Plana, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes Rubió, Maria Antònia; Urreizti, Roser; Tort, Frederic |