Publications by the researcher in collaboration with M. T. García Silva (3)

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

2014

  1. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Orphanet journal of rare diseases, Vol. 9, pp. 187

2010

  1. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

    Molecular Genetics and Metabolism, Vol. 99, Núm. 4, pp. 358-366