Publications by the researcher in collaboration with María Luz Couce Pico (21)
2024
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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
2019
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Situación actual del cribado neonatal de enfermedades metabólicas en España y en el mundo
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 91, Núm. 2, pp. 128-128
2015
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Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]
Molecular Genetics and Metabolism
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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
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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
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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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A glimpse into past, present, and future DNA sequencing
Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 3-24
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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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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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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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
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
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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
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Relevance of expanded neonatal screening of medium-chain Acyl Co-A dehydrogenase deficiency: Outcome of a decade in Galicia (Spain)
Journal of Inherited Metabolic Disease, Vol. 1, pp. 131-136
2010
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Hipermetioninemia en el recién nacido pretérmino: Estudio de los factores predisponentes
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 72, Núm. 3, pp. 179-184
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
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Importancia del diagnóstico precoz y el tratamiento temprano en el pronóstico de la aciduria glutárica tipo I
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 69, Núm. 3, pp. 239-243
2007
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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
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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
1999
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Deficiencia de biotinidasa: Importancia de su diagnostico neonatal y tratamiento precoz
Anales Espanoles de Pediatria, Vol. 50, Núm. 5, pp. 504-506