Article
High-risk screening for Gaucher disease in patients with neurological symptoms.
Journal of human genetics - 1 Jun 2018
Momosaki Ken, Kido Jun, Matsumoto Shirou, Yoshida Shinichiro, Takei Atsuko, Miyabayashi Takuya, Sugawara Keishin, Endo Fumio, Nakamura Kimitoshi
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuronopathic GD has been performed using an enzymatic assay on the...
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