Publicacións nas que colabora con José R Alonso Fernández (13)

2020

  1. Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa

    Revista espanola de salud publica, Vol. 94

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

  2. 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

  3. 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. Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: Preliminary results of an improved DMB-based procedure

    Journal of Clinical Laboratory Analysis, Vol. 24, Núm. 3, pp. 149-153

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

    Molecular Genetics and Metabolism

2009

  1. The contributions of Louis i Woolf to the treatment, early diagnosis and understanding of phenylketonuria

    Journal of Medical Screening, Vol. 16, Núm. 4, pp. 205-211

2008

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

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

1997

  1. Hipofosfatasia infantil

    Anales Espanoles de Pediatria, Vol. 46, Núm. 4, pp. 399-402

  2. Hipofosfatasia infantil.

    Anales españoles de pediatría: Publicación oficial de la Asociación Española de Pediatría ( AEP ), Vol. 46, Núm. 4, pp. 399-399

1984

  1. Determinación de plomo en muestras de sangre impregnadas en papel

    Acta científica compostelana: revista de la Facultad de Ciencias de la Universidad de Santiago de Compostela, Núm. 3, pp. 285-299

1983

  1. The use of continuous thin layer chromatography in the study of mucopolysaccharidoses

    Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 135-136

1981

  1. Continuos thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper

    Journal of Chromatography A, Vol. 217, Núm. C, pp. 357-366