Newborn screening for Gaucher disease in Japan

Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate reduction therapy are limited in the treatment of n...

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Detalles Bibliográficos
Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Shimazu, Tomoyuki, Matsushita, Yuki, Inoue, Takahito, Hirose, Shinichi, Endo, Fumio, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866142/
https://www.ncbi.nlm.nih.gov/pubmed/35242582
http://dx.doi.org/10.1016/j.ymgmr.2022.100850

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