Publicacións en colaboración con investigadores/as de Universidade Federal do Rio Grande do Sul (2)

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. Gene therapy for neuronopathic mucopolysaccharidoses: State of the art

    International Journal of Molecular Sciences, Vol. 22, Núm. 17