Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulat...

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Bibliographic Details
Main Authors: Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Case report
Deficient N-acetylgalactosamine 4-sulfatase
Enzyme replacement therapy
Galsulfase
Glycosaminoglycan
Mucopolysaccharidosis type VI
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300988

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