Research

Metabolomics and biochemical genetics

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Publications

  • 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: 218

    [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: 17

    [doi:10.1002/humu.23181]

  • 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. Number of citations: 18

    [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. Number of citations: 22

    [doi:10.1016/j.jpeds.2016.12.060]

  • Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.

    Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Number of citations: 19

    [doi:10.1038/jhg.2016.104]

  • 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. Number of citations: 146

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

  • Caprile C, Campistol-Plana J, Puigcerver L, Gutiérrez-Mata AP, Alonso-Colmenero I, Colomé-Roura R and Navarra J.

    Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria

    JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY . 39(10): 931-940. Number of citations: 2

    [doi:10.1080/13803395.2017.1281381]

  • 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. Number of citations: 17

    [doi:10.1038/ejhg.2016.124]