Publications in collaboration with researchers from Hospital Sant Joan de Deu (6)

2018

  1. Protocolo de diagnóstico, tratamiento y seguimiento de la aciduria glutárica tipo I

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 205-218

2015

  1. Manejo de la sedación y la analgesia en unidades de cuidados intensivos neonatales españolas

    Anales de Pediatria, Vol. 83, Núm. 2, pp. 75-84

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566

1997

  1. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

    European Journal of Human Genetics, Vol. 5, Núm. 4, pp. 196-202