Loading...
GM1gangliosidosis: Clinical and radiological clue to diagnosis
GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme β-galactosidase, resulting in progressive neural and visceral accumulation of GM1gangliosides. Coarse facial features, bilateral cherry red spots, and dysostosis multiplex are important clue to...
Na minha lista:
| Main Authors: | , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Medknow Publications & Media Pvt Ltd
2012
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3611903/ https://ncbi.nlm.nih.gov/pubmed/23560001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.106472 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|