Publicacións en colaboración con investigadores/as de University of Minnesota (6)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2023

  1. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

    Journal of Clinical Investigation, Vol. 133, Núm. 2

2022

  1. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Journal of Pediatrics

2020

  1. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2013

  1. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

    Nature Genetics, Vol. 45, Núm. 8, pp. 868-876