Publicacións en colaboración con investigadores/as de Hospital Miguel Servet (28)

2022

  1. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  2. The Consensus Definition of Bronchopulmonary Dysplasia Is an Adequate Predictor of Lung Function at Preschool Age

    Frontiers in Pediatrics, Vol. 10

2020

  1. Holistic approach of the care of the infant with hypoxic-ischaemic encephalopathy in Spain

    Anales de Pediatria, Vol. 92, Núm. 5, pp. 286-296

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  3. Rapid phenotype‐driven gene sequencing with the neoseq panel: A diagnostic tool for critically ill newborns with suspected genetic disease

    Journal of Clinical Medicine, Vol. 9, Núm. 8, pp. 1-18

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  3. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  4. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  5. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

  3. Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis

    Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21

2017

  1. Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16

  2. 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

  3. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  4. Kangaroo Mother Care Induced Arrhythmia

    Klinische Padiatrie, Vol. 227, Núm. 5, pp. 299-300

  5. Manejo de la sedación y la analgesia en unidades de cuidados intensivos neonatales españolas

    Anales de Pediatria, Vol. 83, Núm. 2, pp. 75-84