Article
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Brain & development - 1 Nov 2018
Kang Lulu, Wang Yu, Gao Xiaolan, Qiu Wenjuan, Ye Jun, Han Lianshu, Gu Xuefan, Zhang Huiwen
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients. METHOD: The diagnosis of GD was based on the acid β-glucocerebrosidase (GBA) enzyme...
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