Publications
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Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Number of citations: 32
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Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC PEDIATRICS . 14: 284-284. Number of citations: 15
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Turon-Vinas E, Pineda M, Cusi V, Lopez-Laso E, Del Pozo RL, Gutierrez-Solana LG, Moreno DC, Sierra-Corcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodriguez J, González V, O'Callaghan-Gordo M, Muchart-Lopez J and Armstrong-Moron J.
Vanishing white matter disease in a spanish population.
Journal of Central Nervous System Disease . 6: 59-68. Number of citations: 15
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Delgadillo V, O'Callaghan-Gordo M, Gort L, Coll MJ and Pineda M.
Natural history of Sanfilippo syndrome in Spain
ORPHANET JOURNAL OF RARE DISEASES . 8(1): 189-189. Number of citations: 53
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Matos IV, Castejón E, Meavilla S, O'Callaghan-Gordo M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch-Iriberri R and Garcia-Cazorla A.
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency
MOLECULAR GENETICS AND METABOLISM . 109(4): 360-365. Number of citations: 33
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Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome
PLoS One . 8(7): . Number of citations: 60
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Pérez-Poyato M S, O'Callaghan-Gordo M and Pineda M.
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease
Gene . 506(1): 207-210. Number of citations: 12
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O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
Neurogenetics . 13(3): 245-250. Number of citations: 18
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Casado-Rio M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
Cerebellum . 11(2): 557-563. Number of citations: 23
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Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mitochondrion . 11(6): 867-870. Number of citations: 8