Associated Papers
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Sestito S et al.
Orphanet Journal of Rare Diseases, 2022
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ et al.
Human Mutation, 2010
Sanfilippo syndrome: a mini-review.
Valstar MJ et al.
Journal of Inherited Metabolic Disease, 2008
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
Beesley CE et al.
Molecular Genetics and Metabolism, 2007
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