Publicacións nas que colabora con María Dolores Bóveda Fontán (20)

2024

  1. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2015

  1. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    European Journal of Paediatric Neurology, Vol. 19, Núm. 6, pp. 652-659

  2. 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. 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

  2. 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 Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 67, Núm. 4, pp. 337-343

  2. 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

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

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

2003

  1. La mutación P28T del gen GK1 como causa de una deficiencia familiar de galactoquinasa

    Archivos de la Sociedad Española de Oftalmologia, Vol. 78, Núm. 2, pp. 111-114

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