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Neurochemical Abnormalities in Patients with Type 1 Gaucher Disease on Standard of Care Therapy.

著者 Kartha RV , Joers J , Terluk MR , Travis A , Rudser K , Tuite PJ , Weinreb NJ , Jarnes JR , Cloyd JC , Öz G
J Inherit Metab Dis.2019 Oct 15 ; ():.
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Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non-neuronopathic. However, current evidence challenges this view. Multiple studies show that mutations in GBA1 gene and decreased glucocerebrosidase activity are associated with increased risk for Parkinson disease. We tested the hypothesis that subjects with GD1 will show neurochemical abnormalities consistent with cerebral involvement.
PMID: 31613991 [PubMed - as supplied by publisher]
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