Publications
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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. Number of citations: 46
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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. Number of citations: 26
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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. Number of citations: 15
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Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
PLoS One . 11(2): . Number of citations: 127
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Ortigoza-Escobar JD, Molero M, Arias, A, Marti-Sanchez L, Rodriguez-Pombo, P, Artuch-Iriberri R and Pérez-Dueñas B.
Treatment of genetic defects of thiamine transport and metabolism
EXPERT REVIEW OF NEUROTHERAPEUTICS . 16(7): 755-763. Number of citations: 30
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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. Number of citations: 50
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Yubero-Siles D, Montero-Sanchez R, O'Callaghan-Gordo M, Pineda M, Meavilla-Olivas SM, Delgadillo V, Sierra-March C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S and Artuch-Iriberri R.
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
JIMD Reports . 25: 1-7. Number of citations: 10
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Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Number of citations: 19
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Cortés-Saladelafont E, Molero M, Ormazabal-Herrero A, Tristan-Noguero A, Sierra-March C, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.
Diagnosis of Biogenic Amines Synthesis Defects
Journal of Pediatric Neurology . 13(4): 186-197. Number of citations: 2
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Yubero-Siles D, Montero-Sanchez R, Ramos M, Neergheen V, Navas P, Artuch-Iriberri R and Hargreaves I.
Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population
Biofactors . 41(6): 424-430. Number of citations: 18