Buscador de publicaciones

Publicaciones

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Nº de citas: 46

    [doi:10.1016/j.ymgme.2008.01.004]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Nº de citas: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.

    A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis

    MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Nº de citas: 28

    [doi:10.1016/j.ymgme.2007.07.004]

  • Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

    PEDIATRIC RADIOLOGY . 37(10): 1043-1046. Nº de citas: 11

    [doi:10.1007/s00247-007-0558-2]

  • Garcia-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazabal-Herrero A, Pineda M, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Secondary abnormalities of neurotransmitters in infants with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 49(10): 740-744. Nº de citas: 35

    [doi:10.1111/j.1469-8749.2007.00740.x]

  • Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Artuch-Iriberri R, Coroleu W, Krauel Vidal X, Campistol-Plana J and Garcia-Cazorla A.

    Perinatal asphyxia may cause reduction in csf dopamine metabolite concentrations

    Neurology . 69(3): 311-313. Nº de citas: 5

    [doi:10.1212/01.wnl.0000265855.13026.dd]

  • Serrano M, García-Alix A, López JC, Pérez J and Quero J.

    Retained central venous lines in the newborn: report of one case and systematic review of the literature.

    Neonatal Network : Nn . 26(2): 105-10. Nº de citas: 14

    [doi:10.1891/0730-0832.26.2.105]

  • Sebastiani G, Costa Orvay JA, Serrano M and Iriondo-Sanz M.

    [Scrotal edema: a rare complication of percutaneous central venous atheters].

    ANALES DE PEDIATRIA . 65(4): 377-80. Nº de citas: 3

    [doi:10.1157/13092493]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]

  • Gallego D, Serrano M, Cordoba-Caballero J, Gámez A, Seoane P, Perkins JR, Ranea JAG and Pérez B.

    Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . : 167163-167163.

    [doi:10.1016/j.bbadis.2024.167163]