Hospital Universitario Puerta del Mar -ko ikertzaileekin lankidetzan egindako argitalpenak (7)

2020

  1. A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome

    JOURNAL OF MOVEMENT DISORDERS

2018

  1. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report

    Medicine (United States), Vol. 97, Núm. 42

2015

  1. Three cases with L1 syndrome and two novel mutations in the L1CAM gene

    European Journal of Pediatrics, Vol. 174, Núm. 11, pp. 1541-1544

  2. Variability in the clinical presentation of pompe disease: Development following enzyme replacement therapy

    Revista de Neurologia, Vol. 61, Núm. 9, pp. 416-420

2014

  1. Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity

    Revista de Neurologia, Vol. 58, Núm. 4, pp. 161-165

  2. Infant botulism in Andalusia (Southern Spain)

    European Journal of Paediatric Neurology, Vol. 18, Núm. 3, pp. 321-326

2012

  1. Guía clínica de la enfermedad de pompe de inicio tardío

    Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507