Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (53)

2017

  1. Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia

    Developmental Medicine and Child Neurology

2016

  1. Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age

    Journal of Maternal-Fetal and Neonatal Medicine, Vol. 29, Núm. 6, pp. 933-937

  2. Potential protective role of endogenous glutamate-oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic-ischaemic asphyxia

    Developmental Medicine and Child Neurology, Vol. 58, Núm. 1, pp. 57-62

2015

  1. A rare cause of neonatal obstructive jaundice

    Gastroenterology

  2. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]

    Molecular Genetics and Metabolism

  3. 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

  4. Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154]

    Molecular Genetics and Metabolism

  5. New insights in growth of phenylketonuric patients

    European Journal of Pediatrics, Vol. 174, Núm. 5, pp. 651-659

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

    JIMD Reports (Springer), pp. 113-120

  7. Utilidad de los marcadores de remodelado óseo en la detección de enfermedad mineral ósea en pacientes con fenilcetonuria

    Medicina Clinica, Vol. 144, Núm. 5, pp. 193-197

2014

  1. 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

  2. Parálisis de cuerda vocal izquierda como complicación de la cirugía del ductus arterioso persistente

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e7-e11

  3. Prenatal alcohol exposure and its repercussion on newborns

    Journal of Neonatal-Perinatal Medicine, Vol. 7, Núm. 1, pp. 47-54

  4. 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

  5. Utilidad de la distracción mandibular en la secuencia de Pierre Robin en el período neonatal

    Anales de Pediatria

2013

  1. A glimpse into past, present, and future DNA sequencing

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 3-24

  2. 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

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

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

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

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

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

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