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	1.	Synaptic energy metabolism and neuronal excitability, in sickness and health. [electronic resource] by Oyarzabal, Alfonso Marin-Valencia, Isaac Producer: 20200527 In: Journal of inherited metabolic disease vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	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. [electronic resource] by Oyarzabal, Alfonso Martínez-Pardo, Mercedes Merinero, Begoña Navarrete, Rosa Desviat, Lourdes R Ugarte, Magdalena Rodríguez-Pombo, Pilar Producer: 20130726 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. [electronic resource] by Richard, Eva Gallego-Villar, Lorena Rivera-Barahona, Ana Oyarzábal, Alfonso Pérez, Belén Rodríguez-Pombo, Pilar Desviat, Lourdes R Producer: 20181022 In: Oxidative medicine and cellular longevity vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Thiamine transporter-2 deficiency: outcome and treatment monitoring. [electronic resource] by Ortigoza-Escobar, Juan Darío Serrano, Mercedes Molero, Marta Oyarzabal, Alfonso Rebollo, Mónica Muchart, Jordi Artuch, Rafael Rodríguez-Pombo, Pilar Pérez-Dueñas, Belén Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Comprehensive Analysis of GABA [electronic resource] by Oyarzabal, Alfonso Xiol, Clara Castells, Alba Aina Grau, Cristina O'Callaghan, Mar Fernández, Guerau Alcántara, Soledad Pineda, Mercè Armstrong, Judith Altafaj, Xavier García-Cazorla, Angels Producer: 20201006 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. [electronic resource] by Pillai, Nishitha R Yubero, Delia Shayota, Brian J Oyarzábal, Alfonso Ghosh, Rajarshi Sun, Qin Azamian, Mahshid S Arjona, Cesar Brandi, Núria Palau, Francesc Lalani, Seema R Artuch, Rafael García-Cazorla, Angeles Scott, Daryl A Producer: 20200817 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Ndufs4 related Leigh syndrome: A case report and review of the literature. [electronic resource] by Ortigoza-Escobar, Juan Darío Oyarzabal, Alfonso Montero, Raquel Artuch, Rafael Jou, Cristina Jiménez, Cecilia Gort, Laura Briones, Paz Muchart, Jordi López-Gallardo, Ester Emperador, Sonia Pesini, Eduardo Ruiz Montoya, Julio Pérez, Belén Rodríguez-Pombo, Pilar Pérez-Dueñas, Belén Producer: 20170509 In: Mitochondrion vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. [electronic resource] by Ortigoza-Escobar, Juan Darío Molero-Luis, Marta Arias, Angela Oyarzabal, Alfonso Darín, Niklas Serrano, Mercedes Garcia-Cazorla, Angels Tondo, Mireia Hernández, María Garcia-Villoria, Judit Casado, Mercedes Gort, Laura Mayr, Johannes A Rodríguez-Pombo, Pilar Ribes, Antonia Artuch, Rafael Pérez-Dueñas, Belén Producer: 20160524 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency. [electronic resource] by Knerr, Ina Colombo, Roberto Urquhart, Jill Morais, Ana Merinero, Begona Oyarzabal, Alfonso Pérez, Belén 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 Olpin, Simon E Banka, Siddharth Producer: 20200916 In: Journal of inherited metabolic disease vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. [electronic resource] by García-Cazorla, Angels Oyarzabal, Alfonso Fort, Joana Robles, Concepción Castejón, Esperanza Ruiz-Sala, Pedro Bodoy, Susanna Merinero, Begoña Lopez-Sala, Anna Dopazo, Joaquín Nunes, Virginia Ugarte, Magdalena Artuch, Rafael Palacín, Manuel Rodríguez-Pombo, Pilar Alcaide, Patricia Navarrete, Rosa Sanz, Paloma Font-Llitjós, Mariona Vilaseca, Ma Antonia Ormaizabal, Aida Pristoupilova, Anna Agulló, Sergi Beltran Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)