Publicacions
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Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Nº de cites: 5
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Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.
Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Nº de cites: 23
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González MJ, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.
Impaired Neurotransmission in Early-treated Phenylketonuria Patients
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 332-340. Nº de cites: 20
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Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.
Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion . 30: 51-58. Nº de cites: 49
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Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Nº de cites: 26
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Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
METABOLIC BRAIN DISEASE . 31(3): 705-709. Nº de cites: 6
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Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
PLoS One . 11(5): . Nº de cites: 40
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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: 45
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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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Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Nº de cites: 14