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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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Sugiura, Kenta, Kubo, Toru, Ochi, Yuri, Baba, Yuichi, Hirota, Takayoshi, Yamasaki, Naohito, Kitaoka, Hiroaki
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Accés en línia: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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