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Fabry heterozygote mimicking multiple sclerosis
Fabry’s disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. W...
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| Veröffentlicht in: | BMJ Case Rep |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5534993/ https://ncbi.nlm.nih.gov/pubmed/28576916 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-220274 |
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