Mevalonate kinase deficiency: current perspectives

  title={Mevalonate kinase deficiency: current perspectives},
  author={Leslie A Favier and Grant S. Schulert},
  booktitle={The application of clinical genetics},
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, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is… CONTINUE READING
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webpage on the Internet]. Infevers: an online database for autoinflammatory mutations; 2016

  • I Touitou
  • Available from: http://fmf.igh.cnrs. fr/ISSAID…
  • 2016
Highly Influential
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Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

  • AM Siemiatkowska, LI Van Den Born, PM Van Hagen
  • Ophthalmology
  • 2013
Highly Influential
10 Excerpts

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

  • JC van der Hilst, EJ Bodar, KS Barron
  • Medicine (Baltimore)
  • 2008
Highly Influential
10 Excerpts

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