Publicacións (37) Publicacións nas que participase algún/ha investigador/a

filter_list Internal Medicine

2024

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

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

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

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766

  3. 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

2023

  1. NT-PROBNP as a screening tool for low-risk patent ductus arteriousus: a follow-up validation study

    European Journal of Pediatrics, Vol. 182, Núm. 12, pp. 5465-5471

2022

  1. Cuidados paliativos perinatales

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 96, Núm. 1, pp. 60-60

  2. Recommendations for transfusion of blood products in neonatology

    Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8

  3. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  4. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

  5. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias

    Ergon

  2. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

  3. Letter to the editor concerning the article ‘Safety of vaccines administration in hereditary fructose intolerance’

    Human Vaccines and Immunotherapeutics

  4. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

    The Lancet Diabetes and Endocrinology, Vol. 9, Núm. 7, pp. 427-435

  5. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Effects of prebiotic and probiotic supplementation on lactase deficiency and lactose intolerance: A systematic review of controlled trials

    Nutrients, Vol. 12, Núm. 5

  2. Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa

    Revista espanola de salud publica, Vol. 94

  3. Metabolic bone disease of prematurity: Risk factors and associated short-term outcomes

    Nutrients, Vol. 12, Núm. 12, pp. 1-13

2018

  1. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)

    Journal of Inherited Metabolic Disease

  2. Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

    Medicine (United States), Vol. 97, Núm. 29

  3. Early NT-proBNP levels as a screening tool for the detection of hemodynamically significant patent ductus arteriosus during the first week of life in very low birth weight infants

    Journal of Perinatology, Vol. 38, Núm. 7, pp. 881-888