Publicacións (490) Publicacións nas que participase algún/ha investigador/a

filter_list

2025

  1. Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population

    Archives of Pathology and Laboratory Medicine, Vol. 149, Núm. 1, pp. e19-e25

  2. Characterization of the functional component in human milk and identification of the molecular mechanisms undergoing prematurity

    Clinical Nutrition, Vol. 44, pp. 178-192

  3. Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment

    Journal of Inherited Metabolic Disease, Vol. 48, Núm. 1

  4. Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing

    Neurobiology of Disease, Vol. 209

  5. Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

    International journal of molecular sciences, Vol. 26, Núm. 6

  6. Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing

    International Journal of Pharmaceutics, Vol. 668

  7. Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)

    Journal of Inherited Metabolic Disease, Vol. 48, Núm. 2

  8. Situación actual y nuevos pasos en el cribado neonatal en España

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 3

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. Editorial: Bioethics in neonatology

    Frontiers in Pediatrics

  8. Editorial: Nutritional management of patients with inborn errors of metabolism

    Frontiers in Nutrition

  9. Exposición prolongada a la televisión en niños y adolescentes: efectos sobre la salud y estrategias de protección

    Revista espanola de salud publica, Vol. 98

  10. Foveal Avascular Zone development by OCTA: weighing the influence of Gestational Age and neonatal early growth independently of Retinopathy of Prematurity

    Retina

  11. 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

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

    Pediatric Research