Loading...
Lessons from two cases: is Fabry disease the correct diagnosis?
Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmologica...
Na minha lista:
| Udgivet i: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2015
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4434327/ https://ncbi.nlm.nih.gov/pubmed/25969484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-208150 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|