Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de citas: 12

    [doi:10.3390/jcm8010068]

  • van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch-Iriberri R and Hennekam RCM.

    Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

    JIMD Reports . 45: 65-69. Nº de citas: 2

    [doi:10.1007/8904_2018_138]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de citas: 9

    [doi:10.1007/s10545-018-0224-x]

  • Yubero-Siles D and Artuch-Iriberri R.

    NGS for Metabolic Disease Diagnosis.

    ejifcc . 29(3): 227-229. Nº de citas: 3

  • González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Colomé-Roura R, Artuch-Iriberri R and Campistol-Plana J.

    White matter microstructural damage in early treated phenylketonuric patients

    ORPHANET JOURNAL OF RARE DISEASES . 13: 188-188. Nº de citas: 17

    [doi:10.1186/s13023-018-0912-5]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de citas: 7

    [doi:10.1111/dmcn.13746]

  • Casado-Rio M, Sierra-March C, Batllori-Tragant M, Artuch-Iriberri R and Ormazabal-Herrero A.

    A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry

    Metabolomics . 14(6): 76-76. Nº de citas: 28

    [doi:10.1007/s11306-018-1374-4]

  • Vilches C, Boiadjieva-Knopfel E, Bodoy S, Camargo S, Lopez de Heredia M, Prat-Reixach E, Ormazabal-Herrero A, Artuch-Iriberri R, Zorzano A, Verrey F, Nunes V and Palacin M.

    Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids

    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY . 29(6): 1624-1635. Nº de citas: 20

    [doi:10.1681/ASN.2017111205]

  • González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra-March C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch-Iriberri R, Ezquerra M, Fernández-Santiago R and Garrabou G.

    Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations

    NEUROBIOLOGY OF AGING . 65: 206-216. Nº de citas: 14

    [doi:10.1016/j.neurobiolaging.2018.01.021]

  • Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch-Iriberri R, López-Gallardo E, Bayona-Bafaluy MP, Montoya C and Ruiz-Pesini E.

    The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

    FRONTIERS IN NEUROSCIENCE . 12: 61-61. Nº de citas: 16

    [doi:10.3389/fnins.2018.00061]