Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (15)

2024

  1. CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES

    BOLETIN DE PEDIATRIA, Vol. 64, Núm. 267, pp. 29-38

2022

  1. 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

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

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

2021

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

    Nutrients, Vol. 13, Núm. 6

  2. Screen Time and Bone Status in Children and Adolescents: A Systematic Review

    Frontiers in Pediatrics, Vol. 9

  3. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

  4. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

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

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

  2. Clinical utility of lct genotyping in children with suspected functional gastrointestinal disorder

    Nutrients, Vol. 12, Núm. 10, pp. 1-16

2019

  1. Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker

    Medicine, Vol. 98, Núm. 15, pp. e15221

  2. Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    International Journal of Pharmaceutics, Vol. 567

2018

  1. Carbohydrate status in patients with phenylketonuria

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

2017

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

    Scientific Reports, Vol. 7, Núm. 1

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. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1