Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Paz (8)

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. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231

  3. 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. 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

  2. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  3. 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. 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