Article
Clinical and genetic study of Japanese patients with type 3 Gaucher disease.
Molecular genetics and metabolism - 1 Aug 2009
Tajima Asako, Yokoi Takayuki, Ariga Masamichi, Ito Takeru, Kaneshiro Eiko, Eto Yoshikatsu, Ida Hiroyuki
Abstract excerpt
Information on the phenotypic variations seen in patients with type 3 (chronic neuronopathic) Gaucher disease (GD) is still limited compared with type 1 GD. We retrospectively investigated the clinical features of 42 Japanese patients with type 3 GD. The 42 patients classified as type 3 fell into two groups: those diagnosed as having type 3 GD at diagnosis (group A; n = 24) and those thought to have type 1 at...
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