Publicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (12)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2021

  1. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

2020

  1. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

  2. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

2018

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

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

  2. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2017

  1. A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

    Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1

  2. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

  3. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

2015

  1. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    European Journal of Paediatric Neurology, Vol. 19, Núm. 6, pp. 652-659

2011

  1. Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

    Pediatrics International, Vol. 53, Núm. 6, pp. 985-989