Publications
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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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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. Number of citations: 19
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Pineda M, O'Callaghan-Gordo M, Fernandez Lopez A, Coll MJ, Rosendo Ullot Font and García-Fructuoso G.
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome
JIMD Reports . 30: 6-14. Number of citations: 1
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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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Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Number of citations: 46
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Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.
Clinical, etiological and therapeutic aspects of cerebral folate deficiency
EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Number of citations: 20
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O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Mitochondrion . 22: 17-22. Number of citations: 14
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Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.
Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing
Cell . 161(3): 459-469. Number of citations: 220
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Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.
Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders
Journal of Pediatric Biochemistry . 5(1): 15-20. Number of citations: 3