Associated Papers
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
Pontesilli S et al.
The Journal of Pediatrics, 2022
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Select a paper to view details