Publicacións en colaboración con investigadores/as de Universidad Autónoma de Madrid (11)

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. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  3. Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  4. 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

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

2015

  1. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency

    Pediatrics, Vol. 136, Núm. 2, pp. e424-e432

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

2012

  1. Nutritional and pharmacological management during chemotherapy in a patient with propionic acidaemia and rhabdomyosarcoma botryoides

    JIMD Reports (Springer), pp. 73-78

2011

  1. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

    Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503

2008

  1. Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa

    Anales de Pediatria, Vol. 69, Núm. 4, pp. 358-365

2006

  1. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

    Journal of inherited metabolic disease, Vol. 29, Núm. 5, pp. 685