Publicacións (36) Publicacións de María Dolores Bóveda Fontán

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

  2. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

2021

  1. Increased disease activity in early arthritis patients with anti-carbamylated protein antibodies

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Association of high titers of anti-carbamylated protein antibodies with decreased bone mineral density in early arthritis patients

    PLoS ONE, Vol. 13, Núm. 8

  2. Criterios de extracción de muestra en situaciones especiales del cribado neonatal. Revisión

    Revista del laboratorio clínico, Vol. 12, Núm. 4, pp. 189-195

  3. Specific Association of HLA–DRB1*03 With Anti–Carbamylated Protein Antibodies in Patients With Rheumatoid Arthritis

    Arthritis and Rheumatology, Vol. 71, Núm. 3, pp. 331-339

2017

  1. Anti-carbamylated protein autoantibodies associated with mortality in Spanish rheumatoid arthritis patients

    PLoS ONE, Vol. 12, Núm. 7

2016

  1. Anti-carbamylated protein antibodies as a reproducible independent type of rheumatoid arthritis autoantibodies

    PLoS ONE, Vol. 11, Núm. 8

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. Descripción de una cristaluria por amoxicilina

    Revista del laboratorio clínico, Vol. 6, Núm. 2, pp. 89-93

  3. Descripción de una cristaluria por amoxicilina

    Revista del Laboratorio Clinico, Vol. 6, Núm. 2, pp. 89-93

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

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

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

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

  6. 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