Publications en collaboration avec des chercheurs de Hospital Universitario Pío del Río Hortega (21)

2024

  1. 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, Vol. 155, pp. 8-17

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  2. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. The Paediatric Palliative Care Unit has been transformed into Home Care Unit during the COVID-19 pandemic. Is this transformation for the foreseeable future?

    Anales de Pediatria, Vol. 96, Núm. 5, pp. 449-451

2021

  1. COVID-19 in children with neuromuscular disorders

    Journal of neurology, Vol. 268, Núm. 9, pp. 3081-3085

  2. Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study

    Neuropediatrics, Vol. 52, Núm. 3, pp. 192-200

2020

  1. Parental report of quality of life in children with epilepsy: A Spanish/French comparison

    Epilepsy and Behavior, Vol. 105

2019

  1. Bioelectrical impedance vector values in a Spanish healthy newborn population for nutritional assessment

    American Journal of Human Biology, Vol. 31, Núm. 3

2018

  1. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  2. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2

2016

  1. Crisis parainfecciosas: estudio retrospectivo multicéntrico

    Anales de Pediatria, Vol. 85, Núm. 6, pp. 300-304

  2. Visual Impairment Due to Lissencephaly

    Neuro-Ophthalmology, Vol. 40, Núm. 5, pp. 229-233

2014

  1. Evolución de la natalidad en España. Análisis de la tendencia de los nacimientos entre 1941 y 2010

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e1-e6

  2. Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

    Medicina Clinica, Vol. 143, Núm. 1, pp. 25-28

2013

  1. Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

  2. Guía de prá ctica clínica para el tratamiento del síndrome de Hunter

    Medicina Clinica, Vol. 141, Núm. 10

2012

  1. Idiopathic generalized epilepsies with absence seizures with valproic acid treatment: Neuropsychological disorders

    Revista de Neurologia, Vol. 55, Núm. 2, pp. 65-73

2011

  1. Cefalea en el niño

    Pediatria Integral, Vol. 15, Núm. 9, pp. 868-875

2010

  1. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

    European Journal of Medical Genetics, Vol. 53, Núm. 6, pp. 371-377