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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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Principais autores: Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo, Kimitoshi Nakamura
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2022-06-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
Enzyme replacement therapy
Gaucher disease
Glucocerebrosidase
Newborn screening
Neuronopathic Gaucher disease
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426922000106
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