Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (218)

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

  2. Editorial: NGS technologies of rare diseases diagnosis

    Frontiers in Pediatrics

  3. Editorial: Risk and preventive factors in necrotizing enterocolitis and its complications in premature infants

    Frontiers in Pediatrics

  4. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

  5. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  6. Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

    Frontiers in Pediatrics, Vol. 10

  7. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Journal of Pediatrics

  8. MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

    Endocrinology, Diabetes and Metabolism, Vol. 5, Núm. 5

  9. Perinatal palliative care

    Anales de Pediatria, Vol. 96, Núm. 1, pp. 60.e1-60.e7

  10. Postauthorization safety study of betaine anhydrous

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733

  11. Proteomics in Inherited Metabolic Disorders

    International Journal of Molecular Sciences, Vol. 23, Núm. 23

  12. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  13. Recommendations for transfusion of blood products in neonatology

    Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8

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

    Frontiers in Pediatrics, Vol. 10

  15. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

  16. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55