Publicacions en col·laboració amb investigadors/es de Hospital Universitario 12 de Octubre (11)

2024

  1. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

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. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

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. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  2. 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

  3. Weaning practices in phenylketonuria vary between health professionals in Europe

    Molecular Genetics and Metabolism Reports, Vol. 18, pp. 39-44

2018

  1. Early feeding practices in infants with phenylketonuria across Europe

    Molecular Genetics and Metabolism Reports, Vol. 16, pp. 82-89

  2. 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