Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 2013 | A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease | Oyarzábal, Alfonso CSIC ORCID; Martínez Pardo, Mercedes; Merinero, Begoña CSIC; Navarrete, Rosa; Desviat, Lourdes R. CSIC ORCID | artículo |
openAccess | | 20-mar-2018 | Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria | Richard, Eva CSIC ORCID; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
closedAccess | | 2-feb-2023 | BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening | Tangeraas, Trine; Constante, Juliana R; Backe, Paul Hoff; Oyarzábal, Alfonso CSIC ORCID; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, François G; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodríguez-Pombo, Pilar CSIC ORCID; Al-Sannaa, Nouriya; De Los Santos, Mariela; Muchart López, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Mørkrid, Lars; García-Cazorla, Angeles | artículo |
openAccess | | 15-mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, Irene; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ORCID ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
openAccess | | 2019 | Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency | knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begoña CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne ; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez-Pombo, Pilar CSIC ORCID; Olpin, Simon E.; Banka, Siddharth | artículo |
openAccess | | 23-jun-2014 | Thiamine transporter-2 deficiency: outcome and treatment monitoring | Ortigoza-Escobar, Juan Darío; Serrano, Mercedes; Molero, Marta; Oyarzábal, Alfonso CSIC ORCID; Rebollo, Mónica; Muchart, J.; Artuch, Rafael; Rodríguez-Pombo, Pilar CSIC ORCID; Pérez-Dueñas, Belén | artículo |