Publicacións (33) Publicacións de José R Alonso Fernández

2023

  1. Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

    OBM Genetics, Vol. 7, Núm. 4

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

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

    Revista espanola de salud publica, Vol. 94

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

2013

  1. Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples

    Analytical Chemistry, Vol. 85, Núm. 19, pp. 9116-9125

2012

  1. Dietary Sugars: TLC Screening of Sugars in Urine and Blood Samples

    DIETARY SUGARS: CHEMISTRY, ANALYSIS, FUNCTION AND EFFECTS (ROYAL SOC CHEMISTRY), pp. 186-207

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

  3. 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

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

  2. Tría neonatal de galactosemia: situación del ensayo en orina.

    Revista del Laboratorio Clinico

2006

  1. Garantía de la calidad en el laboratorio de cribado neonatal: Recomendaciones

    Quimica Clinica, Vol. 25, Núm. 1, pp. 36-44

  2. Protocolo para la retencion, almacenamiento y usos posteriores de las muestras residuales de sangre seca recogida sobre papel absorbente de los programas de cribado neonatal

    Quimica Clinica, Vol. 25, Núm. 2, pp. 97-103

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