Normal hearing in α-galactosidase A-deficient mice, the mouse model for Fabry disease
✍ Scribed by Konrad Noben-Trauth; Harold Neely; Roscoe O. Brady
- Book ID
- 116525081
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 456 KB
- Volume
- 234
- Category
- Article
- ISSN
- 0378-5955
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## Abstract ## Background Fabry disease is a recessive, X‐linked disorder caused by a deficiency of the lysosomal enzyme α‐galactosidase A, leading to an accumulation of the glycosphingolipid globotriaosylceramide (GL‐3) in most tissues of the body. The goal of this study was to determine if syste
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev