Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Hunter syndrome: case report and review of literature
Hunter syndrome is one of the mucopolysaccharidosis, which are a rare group of genetic diseases, It is due to a deficiency in the enzyme Iduronate 2-sulphatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulphate. The intra and extracellular accumulation of t...
Saved in:
| Format: | Article |
|---|---|
| Published: |
2006-06
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
MARC
| LEADER | 00000njm a2000000a 4500 | ||
|---|---|---|---|
| 001 | oai:repository.ui.edu.ng:123456789/2733 | ||
| 042 | |a dc | ||
| 720 | |a Ogunbiyi, A. |e author | ||
| 720 | |a Adeyinka, A. O. |e author | ||
| 720 | |a Ogah, S. O. |e author | ||
| 720 | |a Baiyeroju, A. M. |e author | ||
| 260 | |c 2006-06 | ||
| 520 | |a Hunter syndrome is one of the mucopolysaccharidosis, which are a rare group of genetic diseases, It is due to a deficiency in the enzyme Iduronate 2-sulphatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulphate. The intra and extracellular accumulation of this substances lead to multisystemic organ abnormality. We present a patient with Hunter syndrome who presented with involvement of the skin, cardiovascular system, the eyes and musculoskeletal system. We have also included a literature review. As far as we know, it is the first case reported in a Nigerian. | ||
| 024 | 8 | |a WAJM 25(2), pp. 169-172 | |
| 024 | 8 | |a http://ir.library.ui.edu.ng/handle/123456789/2733 | |
| 653 | |a Hunter syndrome, | ||
| 653 | |a Complicotions, | ||
| 653 | |a Nigerian. | ||
| 245 | 0 | 0 | |a Hunter syndrome: case report and review of literature |