Research

Metabolomics and biochemical genetics

Search publications

Publications

  • 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. Number of citations: 28

    [doi:10.1038/nprot.2017.103]

  • van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH and van Spronsen FJ.

    The complete European guidelines on phenylketonuria: diagnosis and treatment.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 162-162. Number of citations: 491

    [doi:10.1186/s13023-017-0685-2]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Number of citations: 19

    [doi:10.1038/s41598-017-11620-3]

  • 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): . Number of citations: 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. Number of citations: 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. Number of citations: 15

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

  • Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, Roche F, Meavilla-Olivas SM, Pérez-Cerdá C, García Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T and Tugores A.

    Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

    CLINICAL GENETICS . 92(3): 306-317. Number of citations: 21

    [doi:10.1111/cge.13003]

  • van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH and MacDonald A.

    Key European guidelines for the diagnosis and management of patients with phenylketonuria.

    LANCET DIABETES & ENDOCRINOLOGY . 5(9): 743-756. Number of citations: 274

    [doi:10.1016/S2213-8587(16)30320-5]

  • 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. Number of citations: 24

    [doi:10.1002/stem.2634]

  • Mendes MI, Smith DE, Pop A, Lennertz P, Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Baric I, Boelen C, Campistol-Plana J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M and Salomons GS.

    Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

    HUMAN MUTATION . 38(5): 524-531. Number of citations: 22

    [doi:10.1002/humu.23181]