Publicacións (394) Publicacións de MARIA DE LA LUZ COUCE PICO Ver datos de investigación referenciados.

filter_list

2026

  1. Advances in the administration of ERT (oral pathway) improving the biodistribution of enzymes

    Molecular Genetics and Metabolism, Vol. 147, Núm. 2, pp. 109309

  2. Advances in the early diagnosis of mucolipidosis type II

    Molecular Genetics and Metabolism, Vol. 147, Núm. 2, pp. 109310

  3. Cribado gestacional de la infección por toxoplasma y repercusión neonatal. Análisis y posicionamiento de la Sociedad Española de Neonatología

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 104, Núm. 6

  4. Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry

    Genetics in Medicine, Vol. 28, Núm. 5

  5. Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance

    Nutrients , Vol. 18, Núm. 5

  6. Impact of the COVID-19 pandemic on morbidity and mortality in a Spanish cohort of very-preterm/very-low-birth weight newborns

    Pediatrics and Neonatology, Vol. 67, Núm. 3, pp. 293-298

  7. Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients

    Clinical nutrition (Edinburgh, Scotland), Vol. 59, pp. 106608

  8. Targeted Oxygen for Initial Resuscitation of Preterm Infants: The TORPIDO 30/60 Randomized Clinical Trial

    JAMA, Vol. 335, Núm. 6, pp. 523-530

2025

  1. A comparative proteomic, transcriptomic and glycomic analysis of extracellular vesicle isolation techniques highlights ExoGAG efficiency for a more complete identification of breast milk molecular signaling pathways

    Cell Communication and Signaling , Vol. 23, Núm. 1

  2. ALTERACIONES EN LA EXPRESIÓN GÉNICA SINÁPTICA EN FABRY: UN ANÁLISIS CON RNA-SEQ

    BIOINTEGRASAÚDE 2025

  3. 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

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

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

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

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

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

    Neurobiology of Disease, Vol. 209

  7. EVALUACIÓN CLINICO-BIOQUÍMICA DEL PROGRAMA PIONERO A NIVEL NACIONAL DE CRIBADONEONATAL DE MUCOPOLISACARIDOSIS TIPO 1 Y ENFERMEDAD DE POMPE.

    71 Congreso de la Asociación Española de Pediatría

  8. Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism

    Nutrients , Vol. 17, Núm. 20

  9. Impact of perinatal factors on breast milk composition and volume in preterm infants

    Scientific Reports, Vol. 15, Núm. 1

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

    Pediatric Research, Vol. 97, Núm. 3, pp. 924-938

  11. Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood

    Molecular Genetics and Metabolism Reports, Vol. 45

  12. Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

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