Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (14)

2023

  1. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Biomedicines, Vol. 11, Núm. 10

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Vitamin C and folate status in hereditary fructose intolerance

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

2021

  1. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Dietary practices in methylmalonic acidaemia: A European survey

    Journal of Pediatric Endocrinology and Metabolism, Vol. 33, Núm. 1, pp. 147-155

  2. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    Human Mutation, Vol. 41, Núm. 7, pp. 1329-1338

2019

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

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

  2. 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

  3. Weaning practices in phenylketonuria vary between health professionals in Europe

    Molecular Genetics and Metabolism Reports, Vol. 18, pp. 39-44

2018

  1. Early feeding practices in infants with phenylketonuria across Europe

    Molecular Genetics and Metabolism Reports, Vol. 16, pp. 82-89

2017

  1. Dietary practices in isovaleric acidemia: A European survey

    Molecular Genetics and Metabolism Reports, Vol. 12, pp. 16-22

  2. Dietary practices in propionic acidemia: A European survey

    Molecular Genetics and Metabolism Reports, Vol. 13, pp. 83-89

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

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

2015

  1. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

    Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 17-22