Publicacións nas que colabora con José R Alonso Fernández (15)

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

1999

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

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

  2. Deficiencia de biotinidasa: importancia de su diagnóstico neonatal y tratamiento precoz

    Anales españoles de pediatría: Publicación oficial de la Asociación Española de Pediatría ( AEP ), Vol. 50, Núm. 5, pp. 504-506

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. Selenium state of children. The selenium content of the serum of normal children and children with inborn errors of metabolism

    Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 99-100

  2. The determination of copper and zinc in microsamples of undeproteinized blood serum using atomic absorption spectrophotometry with direct flame injection

    Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 91-92

  3. 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