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Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-te...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Sugiura, Kenta, Kubo, Toru, Ochi, Yuri, Baba, Yuichi, Hirota, Takayoshi, Yamasaki, Naohito, Kitaoka, Hiroaki
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7576511/
https://ncbi.nlm.nih.gov/pubmed/33101981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100662
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