M. T. García Silva-rekin lankidetzan egindako argitalpenak (7)

2022

  1. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    JIMD Reports, Vol. 63, Núm. 2, pp. 146-161

  2. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

2020

  1. Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid

    Revista espanola de salud publica, Vol. 94

2019

  1. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

2018

  1. Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

    JIMD Reports (Springer), pp. 63-74

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

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