Publicacións en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (31)

2024

  1. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  2. Need for therapeutic escalation in patients with refractory ulcerative proctitis: Results from the PROCU study of the ENEIDA registry

    Alimentary Pharmacology and Therapeutics, Vol. 60, Núm. 5, pp. 604-612

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

    Nutrients, Vol. 16, Núm. 5

2023

  1. Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

    Nutrients, Vol. 15, Núm. 16

  2. Trends in cardiovascular care in the National Health System in Spain. Data from the RECALCAR project 2011-2020

    Revista Espanola de Cardiologia, Vol. 76, Núm. 7, pp. 519-530

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. Improved short-term outcomes of kidney transplants in controlled donation after the circulatory determination of death with the use of normothermic regional perfusion

    American Journal of Transplantation, Vol. 21, Núm. 11, pp. 3618-3628

  3. Recommendations on the skills profile and standards of the neonatal transport system in Spain

    Anales de Pediatria, Vol. 94, Núm. 6, pp. 420.e1-420.e11

  4. Treatment adherence in tyrosinemia type 1 patients

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

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

  2. Trends in cardiogenic shock management and prognostic impact of type of treating center

    Revista Espanola de Cardiologia, Vol. 73, Núm. 7, pp. 546-553

2019

  1. Cribado neonatal

    Pediatria Integral, Vol. 23, Núm. 3, pp. 169.e1-169.e10

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  3. Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

  3. Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

    Medicine (United States), Vol. 97, Núm. 32

2016

  1. Factores asociados a estancias cortas en los pacientes ingresados por insuficiencia cardiaca aguda

    Emergencias, Vol. 28, Núm. 6, pp. 366-374

  2. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16