Publicacións (322) Publicacións nas que participase algún/ha investigador/a

2024

  1. 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

    Nutrients, Vol. 16, Núm. 1

  2. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

  3. Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

    Translational Research, Vol. 269, pp. 47-63

  4. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

  5. 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

  6. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

  7. Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence

    Nutrients, Vol. 16, Núm. 5

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

  2. Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

    Nutrients, Vol. 15, Núm. 16

  3. Care levels in neonatal units in Spain: An updated vision for a new reality

    Anales de Pediatria, Vol. 98, Núm. 4, pp. 301-307

  4. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

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

    Nutrients, Vol. 15, Núm. 18

  6. Human Breast Milk microRNAs, Potential Players in the Regulation of Nervous System

    Nutrients, Vol. 15, Núm. 14

  7. NT-PROBNP as a screening tool for low-risk patent ductus arteriousus: a follow-up validation study

    European Journal of Pediatrics, Vol. 182, Núm. 12, pp. 5465-5471

  8. 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

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

    Environmental Pollution, Vol. 318

  10. Probióticos y enterocolitis necrosante

    Microbiota, probióticos y prebióticos: evidencia científica (Ergon), pp. 319-323

  11. Proteomic analysis of exosomes derived from human mature milk and colostrum of mothers with term, late preterm, or very preterm delivery

    Analytical Methods, Vol. 15, Núm. 37, pp. 4905-4917

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

  2. Editorial: NGS technologies of rare diseases diagnosis

    Frontiers in Pediatrics