Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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. Number of citations: 7

    [doi:10.1111/dmcn.13746]

  • de Salazar, MG, Grau-Páez C, Ciruela, F and Altafaj, X.

    Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 11: . Number of citations: 2

    [doi:10.3389/fnmol.2018.00226]

  • Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.

    Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

    ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Number of citations: 13

    [doi:10.1186/s13023-018-0840-4]

  • Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan-Gordo M and Del Toro M.

    Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

    Molecular genetics and metabolism reports . 15: 116-120. Number of citations: 10

    [doi:10.1016/j.ymgmr.2018.03.009]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4

    [doi:10.33588/rn.6607.2017498]

  • Saudubray JM and Garcia-Cazorla A.

    Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management

    PEDIATRIC CLINICS OF NORTH AMERICA . 65(2): 179-208. Number of citations: 103

    [doi:10.1016/j.pcl.2017.11.002]

  • Tello C, Darling A, Lupo V, Pérez-Dueñas B and Espinós C.

    On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

    CLINICAL GENETICS . 93(4): 731-740. Number of citations: 23

    [doi:10.1111/cge.13057]

  • López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V and Domínguez-Garrido E.

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

    BMC MEDICAL GENETICS . 19: 36-36. Number of citations: 26

    [doi:10.1186/s12881-018-0548-2]

  • Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Number of citations: 34

    [doi:10.3390/ijms19020619]

  • Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

    Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

    ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Number of citations: 37

    [doi:10.1186/s13023-018-0758-x]