Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (11)

2021

  1. Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

    Journal of Inborn Errors of Metabolism and Screening, Vol. 9

2020

  1. Dr. Louis Isaac Woolf: At the forefront of newborn screening and the diet to treat phenylketonuria—biography to mark his 100th birthday

    International Journal of Neonatal Screening

2016

  1. Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening

    Molecular Genetics and Metabolism Reports

2011

  1. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

    Molecular Genetics and Metabolism, Vol. 104, Núm. 4, pp. 470-475

  2. The TSH threshold in neonatal screening for congenital hypothyroidism: A variable solution

    Archives of Disease in Childhood, Vol. 96, Núm. 6, pp. 565-566

2010

  1. Newborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf

    Molecular Genetics and Metabolism

  2. Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening

    Journal of Clinical Laboratory Analysis, Vol. 24, Núm. 2, pp. 106-112

2008

  1. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522

1999

  1. Deficiencia de biotinidasa: Importancia de su diagnostico neonatal y tratamiento precoz

    Anales Espanoles de Pediatria, Vol. 50, Núm. 5, pp. 504-506

1995

  1. Detection of Brucella antibodies in eluted dried blood: a validation study

    Immunology Letters, Vol. 45, Núm. 1-2, pp. 107-108

1993

  1. CISTATIONINURIA CONGENITA. B6 DEPENDIENTE

    Anales Espanoles de Pediatria, Vol. 39, Núm. 3, pp. 260-264