Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (19)

2021

  1. Cribado neonatal del hipotiroidismo congénito

    Revista espanola de salud publica, Vol. 95

  2. Identificación de una nueva mutación en el gen humano xantina causante de la xantinuria tipo I

    Advances in Laboratory Medicine, Vol. 2, Núm. 4, pp. 571-574

  3. Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type i

    Advances in Laboratory Medicine, Vol. 2, Núm. 4, pp. 567-570

2017

  1. Valores de referencia de aminoácidos, acilcarnitinas y succinilacetona por espectrometría de masas en tándem para su uso en el tamizaje neonatal en el suroccidente de Colombia

    Colombia Medica, Vol. 48, Núm. 3, pp. 112-118

2015

  1. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]

    Molecular Genetics and Metabolism

  2. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]

    Molecular Genetics and Metabolism

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. Birth prevalence of fatty acid β-Oxidation disorders in iberia

    JIMD Reports (Springer), pp. 89-94

  3. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531

2013

  1. A glimpse into past, present, and future DNA sequencing

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 3-24

  2. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

    Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221

  3. Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

    European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389

2012

  1. Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

    Rapid Communications in Mass Spectrometry, Vol. 26, Núm. 18, pp. 2131-2144

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. 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. Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme

    Journal of Inherited Metabolic Disease, Vol. 31, Núm. SUPPL. 2

2007

  1. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.

    Journal of inherited metabolic disease, Vol. 30, Núm. 5, pp. 812

2006

  1. Aplicación de la espectrometría de masas en Tándem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel

    Quimica Clinica, Vol. 25, Núm. 2, pp. 64-74

1999

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

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