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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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Furujo, Mahoko, Kosuga, Motomichi, Okuyama, Torayuki
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5622997/
https://ncbi.nlm.nih.gov/pubmed/28983456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.08.007
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