Adult and infantile Gaucher disease in one family: Mutational studies and clinical update
β Scribed by Maryam Shahinfar; David A. Wenger
- Book ID
- 117163325
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 741 KB
- Volume
- 125
- Category
- Article
- ISSN
- 1097-6833
No coin nor oath required. For personal study only.
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## Abstract Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy
Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal β€-glucocerebrosidase. More than 60 mutations have been described in the GBA gene. They have been classified as lethal, severe, and mild on the basis of the corresponding phenotype. The fact that most G