Gaucher Disease Patient With Myoclonus Epilepsy and a Novel Mutation
β Scribed by Asako Tajima; Toya Ohashi; Shin-ichiro Hamano; Norimichi Higurashi; Hiroyuki Ida
- Book ID
- 116825642
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 248 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0887-8994
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Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m
Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).