Life expectancy in Gaucher disease type 1
โ Scribed by Neal J. Weinreb; Patrick Deegan; Katherine A. Kacena; Pramod Mistry; Gregory M. Pastores; Priscilla Velentgas; Stephan vom Dahl
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 156 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0361-8609
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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).
## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2
Massive splenomegaly is a frequent finding in patients with Gaucher disease, the most common of the sphingolipidoses. Even so, the risk for splenic rupture and intracapsular hemorrhage has not been emphasized due to the rarity of this occurrence and the fibrotic, rubbery consistency of splenic tissu
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