Publicacións (340) 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. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

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

    Frontiers in Genetics

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

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

  5. Infecciones relacionadas con la asistencia sanitaria en neonatología

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 100, Núm. 1, pp. 46-56

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

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

  7. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

  8. 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

  9. Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders

    International Journal of Pharmaceutics, Vol. 657

  10. Participation and satisfaction results from an online Bioethics course for first year residents

    Educacion Medica, Vol. 25, Núm. 2

  11. Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry

    European Journal of Pediatrics

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

    Genetics in Medicine, Vol. 26, Núm. 4

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

    Nutrients, Vol. 16, Núm. 5

  14. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

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