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 hyperinflammation associated with fever, abdominal pain… (More)
DOI: 10.2147/TACG.S93933


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@inproceedings{Favier2016MevalonateKD, title={Mevalonate kinase deficiency: current perspectives}, author={Leslie A Favier and Grant S. Schulert}, booktitle={The application of clinical genetics}, year={2016} }