Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Bernaus S, Romagosa J, Mata-Miquel C, Stephan-Otto C, Benítez R, Valls-Esteve A and Munuera-del Cerro JL.

    Novel classification of brain vascular tortuosity measures: A systematic review.

    Computers in biology and medicine . 190: 109990-109990.

    [doi:10.1016/j.compbiomed.2025.109990]

  • Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.

    Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy

    MED . 6(4): 100544-100544. Number of citations: 1

    [doi:10.1016/j.medj.2024.10.021]

  • Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla-Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortés-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M and Quijada-Fraile P.

    Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

    Nutrients . 17(7): .

    [doi:10.3390/nu17071173]

  • Garcia-Cazorla A, Morava, E and Saudubray, JM.

    "Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Number of citations: 1

    [doi:10.1002/jimd.70004]

  • Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA and Vanderver AL.

    The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109048-109048. Number of citations: 2

    [doi:10.1016/j.ymgme.2025.109048]

  • Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL.

    The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051.

    [doi:10.1016/j.ymgme.2025.109051]

  • Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X.

    Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Number of citations: 1

    [doi:10.1002/jimd.70015]

  • Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña L, Ruiz de Valbuena M and O'Callaghan-Gordo M.

    Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD Study.

    Revista clinica espanola . 225(2): 70-77.

    [doi:10.1016/j.rceng.2024.11.007]

  • Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.

    Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome

    PEDIATRIC RESEARCH . 97(2): 751-762. Number of citations: 1

    [doi:10.1038/s41390-024-03254-9]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 1

    [doi:10.1002/jimd.12805]