Publicacións nas que colabora con María Dolores Bóveda Fontán (19)

2015

  1. Newborn screening for homocystinuria revealed a high frequency of MAT I/III deficiency in iberian Peninsula

    JIMD Reports (Springer), pp. 113-120

2014

  1. 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. 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

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

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

  3. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

    Gene, Vol. 521, Núm. 1, pp. 100-104

  4. Risk factors for developing mineral bone disease in phenylketonuric patients

    Molecular Genetics and Metabolism, Vol. 108, Núm. 3, pp. 149-154

2012

  1. Determinación de ácido etilendiaminotetraacético por espectrometría de masas en tándem en muestras de sangre impregnadas en papel. Utilidad en la medida de tirotropina para cribado neonatal de hipotiroidismo congénito ?

    Revista del laboratorio clínico, Vol. 5, Núm. 4, pp. 188-194

  2. 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

  3. Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years

    JIMD Reports (Springer), pp. 91-96

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. Inborn errors of metabolism in a neonatology unit: Impact and long-term results

    Pediatrics International, Vol. 53, Núm. 1, pp. 13-17

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. Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia

    Anales de Pediatria, Vol. 67, Núm. 4, pp. 337-343

  2. 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

  2. Avances en el diagnóstico y terapéutica de los niños con tirosinemia tipo I

    Pediatrika, Vol. 26, Núm. 1, pp. 37-42

1989

  1. Simultaneous elution from sample-paper and loading in thin layer chromatography for differential diagnosis of galactosaemias

    Current trends in infant screening: proceedings of the 7th International Screening Symposium. ICS848, pp. 181-185

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