Mortality in patients with Sanfilippo syndrome

Abstract Background Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant...

Full description

Bibliographic Details
Main Authors: Christine Lavery, Chris J. Hendriksz, Simon A. Jones
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13023-017-0717-y