Publicaciones (354) Publicaciones de MARIA DE LA LUZ COUCE PICO

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. CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES

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

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

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

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

    BMC Pediatrics, Vol. 24, Núm. 1

  7. 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

  8. Long-chain polyunsaturated fatty acids supplementation and sepsis: a systematic review and meta-analysis

    Pediatric Research

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

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

  10. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

  11. Nutrient Status and Intakes of Adults with Phenylketonuria

    Nutrients , Vol. 16, Núm. 16

  12. 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

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

    International Journal of Pharmaceutics, Vol. 657

  14. Pain and heart rate variability in neonates receiving dexmedetomidine

    Journal of Perinatology

  15. Recién nacido pequeño para la edad gestacional: concepto, diagnóstico y caracterización neonatal, seguimiento y recomendaciones

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 2, pp. 124-131

  16. Recomendaciones de la Sociedad Española de Neonatología para la profilaxis frente a las infecciones graves por virus respiratorio sincitial con nirsevimab, para la estación 2024-2025

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 5, pp. 364-366

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

    Genetics in Medicine, Vol. 26, Núm. 4

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

    Nutrients, Vol. 16, Núm. 5

  19. 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