Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelia...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-01-01
|
| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2020/8899703 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|