Mortality in patients with Sanfilippo syndrome

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...

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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:
Sanfilippo syndrome
Mucopolysaccharidosis
Mortality
Respiratory failure
Pneumonia
Online Access:http://link.springer.com/article/10.1186/s13023-017-0717-y

Internet

http://link.springer.com/article/10.1186/s13023-017-0717-y

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