Publicacións en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (41)

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. Nutrient Status and Intakes of Adults with Phenylketonuria

    Nutrients , Vol. 16, Núm. 16

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

    Nutrients, Vol. 16, Núm. 5

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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

  2. 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

  3. 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

  4. Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España

    Revista espanola de salud publica, Vol. 95

2020

  1. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  2. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  3. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  4. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  5. 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

  6. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

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

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

  3. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report

    Medicine (United States), Vol. 97, Núm. 42

  4. 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

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

  2. Predicting cardiovascular events in familial hypercholesterolemia: The SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study)

    Circulation, Vol. 135, Núm. 22, pp. 2133-2144