Publikationen in Zusammenarbeit mit Forschern von Instituto de Investigación Sanitaria de Santiago de Compostela (15)

2024

  1. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

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

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

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

    Nutrients, Vol. 16, Núm. 5

2023

  1. 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

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

    Nutrients, Vol. 15, Núm. 18

  3. 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

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

    Environmental Pollution, Vol. 318

2022

  1. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2020

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

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

2019

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

    Nutrients, Vol. 11, Núm. 7

  2. Identification and characterization of new variants in FOXRED1 gene expands the clinical spectrum associated with mitochondrial complex I deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 8

2018

  1. 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

2017

  1. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

2014

  1. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531