Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (7)

2022

  1. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2018

  1. Protocolo de diagnóstico y tratamiento de las deficiencias de la β-oxidación mitocondrial de los ácidos grasos

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 43-66

2012

  1. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

    British Journal of Dermatology, Vol. 166, Núm. 4, pp. 830-838

  2. Corrigendum to "Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form" [Molecular Genetics and Metabolism 94/2 (2008) 234-239]

    Molecular Genetics and Metabolism

2010

  1. Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2008

  1. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

    Molecular Genetics and Metabolism, Vol. 94, Núm. 2, pp. 234-239