Publicacions
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Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Mitochondrion . 26: 72-80. Nº de cites: 19
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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: 50
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García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MT, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis (vol 42, pg 27, 2009)
CLINICAL BIOCHEMISTRY . 49(1-2): 197-197.
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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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 18
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Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla-Olivas SM, Bóveda MD, Fernández-Marmiesse A and Garcia-Cazorla A.
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 19(6): 652-659. Nº de cites: 30
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Sariego-Jamardo A, Garcia-Cazorla A, Artuch-Iriberri R, Castejón E, García-Arenas D, Molero M, Ormazabal-Herrero A and Sanmarti FX.
Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels
PEDIATRIC NEUROLOGY . 53(5): 422-426. Nº de cites: 15
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Ormazabal-Herrero A, Casado-Rio M, Molero M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S and Artuch-Iriberri R.
Can folic acid have a role in mitochondrial disorders?
DRUG DISCOVERY TODAY . 20(11): 1349-1354. Nº de cites: 32