The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

Abstract Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). Methods A diagnosis of...

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Bibliographic Details
Main Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Mucopolysaccharidosis type II
Hunter syndrome
Clinical features
Mutations
Online Access:http://link.springer.com/article/10.1186/s12881-020-01051-9

Internet

http://link.springer.com/article/10.1186/s12881-020-01051-9

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