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, Vol. 44, Núm. 11, pp. 1669-1674

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. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

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

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

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