Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • 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 citas: 17

    [doi:10.1186/s13023-015-0376-9]

  • 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 citas: 2

    [doi:10.1055/s-0035-1558865]

  • 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 citas: 17

    [doi:10.1002/biof.1242]

  • 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 citas: 15

    [doi:10.1016/j.pediatrneurol.2015.07.013]

  • 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 citas: 30

    [doi:10.1016/j.drudis.2015.07.002]

  • 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. Nº de citas: 42

    [doi:10.1186/s13023-015-0358-y]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 13

    [doi:10.1586/14737159.2015.1062727]

  • 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. Nº de citas: 20

    [doi:10.1586/14737175.2015.1055322]

  • 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. Nº de citas: 13

    [doi:10.1016/j.mito.2015.03.001]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de citas: 17

    [doi:10.3389/fgene.2015.00102]