María Dolores
Bóveda Fontán
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Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (23)
2021
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Increased disease activity in early arthritis patients with anti-carbamylated protein antibodies
Scientific Reports, Vol. 11, Núm. 1
2019
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Association of high titers of anti-carbamylated protein antibodies with decreased bone mineral density in early arthritis patients
PLoS ONE, Vol. 13, Núm. 8
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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
2016
2015
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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
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Newborn screening for homocystinuria revealed a high frequency of MAT I/III deficiency in iberian Peninsula
JIMD Reports (Springer), pp. 113-120
2014
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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
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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
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Descripción de una cristaluria por amoxicilina
Revista del Laboratorio Clinico, Vol. 6, Núm. 2, pp. 89-93
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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis
European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389
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Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
Gene, Vol. 521, Núm. 1, pp. 100-104
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Risk factors for developing mineral bone disease in phenylketonuric patients
Molecular Genetics and Metabolism, Vol. 108, Núm. 3, pp. 149-154
2012
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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
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Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years
JIMD Reports (Springer), pp. 91-96
2011
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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
2008
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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
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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
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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
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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