Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.

    Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    SCIENTIFIC REPORTS . 7: 14675-14675. Nº de cites: 6

    [doi:10.1038/s41598-017-15063-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.

    Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

    NATURE PROTOCOLS . 12(11): 2359-2375. Nº de cites: 28

    [doi:10.1038/nprot.2017.103]

  • Casado-Rio M, Ferrer-Lopez, I, Ruiz-Sala, P, Perez-Cerda, C and Artuch-Iriberri R.

    Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

    REVIEWS IN ANALYTICAL CHEMISTRY . 36(3): . Nº de cites: 7

    [doi:10.1515/revac-2016-0019]

  • Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Marti-Sanchez L.

    Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

    ANNALS OF NEUROLOGY . 82(3): 317-330. Nº de cites: 49

    [doi:10.1002/ana.24998]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de cites: 15

    [doi:10.1007/s10545-017-0028-4]

  • Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodriguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Cascajo MV, Velasco I, Canals JM, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch-Iriberri R, Navas P and Menéndez P.

    Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells . 35(7): 1687-1703. Nº de cites: 24

    [doi:10.1002/stem.2634]

  • Yubero-Siles D, Allen G, Artuch-Iriberri R and Montero-Sanchez R.

    The Value of Coenzyme Q10 Determination in Mitochondrial Patients

    Journal of Clinical Medicine . 6(4): 37-37. Nº de cites: 22

    [doi:10.3390/jcm6040037]

  • Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.

    A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    JOURNAL OF PEDIATRICS . 183: 170-170. Nº de cites: 25

    [doi:10.1016/j.jpeds.2016.12.060]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Nº de cites: 163

    [doi:10.1186/s13023-016-0522-z]

  • Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch-Iriberri R, Roca I, Ruiz-Pesini E, Couce ML and Montoya J.

    Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    EUROPEAN JOURNAL OF HUMAN GENETICS . 25(1): 153-156. Nº de cites: 19

    [doi:10.1038/ejhg.2016.124]