Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (19)

2023

  1. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

    Journal of Clinical Investigation, Vol. 133, Núm. 2

2022

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

    Journal of Pediatrics

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

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

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

    Frontiers in Pediatrics, Vol. 10

2021

  1. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  2. Evaluation of body composition, physical activity, and food intake in patients with inborn errors of intermediary metabolism

    Nutrients, Vol. 13, Núm. 6

  3. Gene therapy for neuronopathic mucopolysaccharidoses: State of the art

    International Journal of Molecular Sciences, Vol. 22, Núm. 17

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

  2. Effects of nutritional education interventions on metabolic risk in children and adolescents: A systematic review of controlled trials

    Nutrients, Vol. 12, Núm. 1

  3. Effects of prebiotic and probiotic supplementation on lactase deficiency and lactose intolerance: A systematic review of controlled trials

    Nutrients, Vol. 12, Núm. 5

  4. 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. Effects of LC-PUFA supplementation in patients with phenylketonuria: A systematic review of controlled trials

    Nutrients, Vol. 11, Núm. 7

  2. Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

    International journal of molecular sciences, Vol. 20, Núm. 18

2018

  1. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  2. Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials

    Advances in nutrition (Bethesda, Md.), Vol. 10, Núm. 2, pp. S88-S96

  3. Neonatal lethal hypophosphatasia A case report and review of literature

    Medicine (United States), Vol. 97, Núm. 48

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Nonspecific (heterologous) protection of neonatal BCG vaccination against hospitalization due to respiratory infection and sepsis

    Clinical Infectious Diseases, Vol. 60, Núm. 11, pp. 1611-1619

  2. Viral co-infections in pediatric patients hospitalized with lower tract acute respiratory infections

    PLoS ONE, Vol. 10, Núm. 9