Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (3)

2023

  1. Etiology of avascular necrosis of the hip and shoulder. Screening for Gaucher disease

    Revista Clinica Espanola, Vol. 223, Núm. 1, pp. 17-24

2022

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

    Frontiers in Pediatrics, Vol. 10

2018

  1. 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