Publicacions
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Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch-Iriberri R, De Cabo R, Salviati L and Navas P.
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies
BMJ Open . 3(3): . Nº de cites: 19
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Nº de cites: 13
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Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
JIMD Reports . 8: 57-62. Nº de cites: 6
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Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal-Herrero A and Artuch-Iriberri R.
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects
DRUG DISCOVERY TODAY . 17(23-24): 1299-1306. Nº de cites: 35
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Sanchez-Masian DF, Artuch-Iriberri R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado-Rio M, Fernandez M, Recio A and Lujan A.
L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers
JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION . 48(5): 366-371. Nº de cites: 15
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Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Alvarez E, Muchart-Lopez J, Martorell-Sampol L, Artuch-Iriberri R, Obeso JA and Pérez-Dueñas B.
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
MOVEMENT DISORDERS . 27(10): 1295-1303. Nº de cites: 33
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Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.
Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients
REVISTA DE NEUROLOGIA . 55(4): 200-206. Nº de cites: 3
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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. Nº de cites: 18
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Pérez-Dueñas B, Sempere A, Campistol-Plana J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR and Artuch-Iriberri R.
Novel features in the evolution of adenylosuccinate lyase deficiency
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(4): 343-348. Nº de cites: 14
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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. Nº de cites: 20