Results 141 to 150 of about 12,683 (169)
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Mevalonate Kinase Deficiency and Autoinflammation
New England Journal of Medicine, 2007To the Editor: The Perspective article about mevalonate kinase deficiency and autoinflammatory disorders by Haas and Hoffmann (June 28 issue)1 accompanies the Brief Report by Neven et al.2 The Perspective describes the disease spectrum of human mevalonate kinase deficiency, which includes unexplained periodic episodes of fever and inflammation, and ...
Elizabeth J. Hager, K. Michael Gibson
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[Mevalonate kinase deficiency].
La Revue du praticienMEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
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[Mevalonate kinase deficiency in 2016].
La Revue de medecine interne, 2018Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum ...
C, Galeotti +4 more
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Mevalonate kinase Map position 12q24
Chromosome Research, 1997K M, Gibson +4 more
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Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
Indian Journal of Pediatrics, 2021Puneet Kumar Choudhary +3 more
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Biochemical and genetic aspects of mevalonate kinase and its deficiency
Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2000Hans Waterham +2 more
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