Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (29)

2024

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

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

  2. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

  3. Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

    Nutrients, Vol. 16, Núm. 3

  4. Searching molecular biomarkers correlating with BSID-III at 24 months in infants with neonatal hypoxic-ischemic encephalopathy

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3933-3942

2023

  1. Effects of Maternal Stress on Breast Milk Production and the Microbiota of Very Premature Infants

    Nutrients, Vol. 15, Núm. 18

  2. Non-invasive biomonitoring of infant exposure to environmental organic pollutants in north-western Spain based on hair analysis. Identification of potential sources

    Environmental Pollution, Vol. 339

  3. Postnatal exposure to organic pollutants in maternal milk in north-western Spain

    Environmental Pollution, Vol. 318

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

  2. 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

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

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

2021

  1. Bone mineral density, body composition, and metabolic health of very low birth weight infants fed in hospital following current macronutrient recommendations during the first 3 years of life

    Nutrients, Vol. 13, Núm. 3, pp. 1-20

  2. Bone mineralization and calcium phosphorus metabolism

    Nutrients

  3. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

  4. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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

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

    Nutrients, Vol. 13, Núm. 6

  6. Métodos para la evaluación económica de programas de cribado neonatal

    Revista espanola de salud publica, Vol. 95

2020

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

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

  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. Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study

    Frontiers in Pediatrics, Vol. 8