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Mevalonate kinase deficiency: current perspectives
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyper...
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| Veröffentlicht in: | Appl Clin Genet |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Dove Medical Press
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4959763/ https://ncbi.nlm.nih.gov/pubmed/27499643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S93933 |
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