Publicacions
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Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de cites: 8
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De Oyarzabal-Sanz AL, Musokhranova U, O'Callaghan-Gordo M, Bravo Alonso, Irene, Rejas, María Teresa, Armstrong-Moron J, Rodríguez Pombo, Pilar and Garcia-Cazorla A.
Energy dysfunction in Rett syndrome: studying a neurogenetic disorder from the metabolic perspective
JOURNAL OF INHERITED METABOLIC DISEASE . 42(S1): .
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De Oyarzabal-Sanz AL and Marin-Valencia I.
Synaptic energy metabolism and neuronal excitability, in sickness and health
JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 220-236. Nº de cites: 30
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Richard E, Gallego-Villar L, Rivera-Barahona A, De Oyarzabal-Sanz AL, Pérez B, Rodríguez-Pombo P and Ruiz-Desviat L.
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY . 2018: 1246069-1246069. Nº de cites: 25
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Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.
Ndufs4 related Leigh syndrome: A case report and review of the literature
Mitochondrion . 28: 73-78. Nº de cites: 40
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De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Nº de cites: 24
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Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado-Rio M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R and Pérez-Dueñas B.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
BRAIN . 139: 31-38. Nº de cites: 48
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Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.
Thiamine transporter-2 deficiency: outcome and treatment monitoring
ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Nº de cites: 46
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Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
HUMAN MUTATION . 35(4): 470-477. Nº de cites: 59
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De Oyarzabal-Sanz AL, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M and Rodríguez-Pombo P.
A Novel Regulatory Defect in the Branched-Chain -Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease
HUMAN MUTATION . 34(2): 355-362. Nº de cites: 59