Gaucher disease: Resetting the clinical and scientific agenda
โ Scribed by Pramod K. Mistry; Neal J. Weinreb; Roscoe O. Brady; Gregory A. Grabowski
- Book ID
- 101436546
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 68 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcran
## Abstract The clinical features in 2 second cousins with neuronopathic Gaucher disease include slowly progressive ataxia, spasticity, myoclonus, and seizures with relative preservation of intellectual function. Organomegaly was noted only in Patient 1. Both patients had diffuse slowing with parox
Glucocerebroside beta-glucosidase (glucocerebrosidase) activity was assayed from cultured fibroblasts of normal individuals, and patients with type 1 (non-neuropathic), type 2 (acute neuropathic), and type 3 (subacute neuropathic) form of Gaucher disease. Residual glucocerebrosidase activity of pati