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et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Mevalonate kinase deficiency (MKD) is a disease that runs in families. A problem with your immune system causes attacks of fever and symptoms like swollen glands , chills, and belly pain every few ...
Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disease caused by blocking of the enzyme mevalonate kinase in the pathway of cholesterol and isoprenoids. The pathogenic ...
A deficiency of mevalonate kinase resulting in mevalonic aciduria was the first inherited defect in cholesterol and nonsterol isoprene biosynthesis to be recognized.1 Nine other enzyme deficiencies ...
A family of untethered proteins builds up in the cells of children with a rare and serious genetic condition, known as mevalonate kinase deficiency (MKD), report scientists. The findings could be ...
Elevated core body temperatures may cause bursts of inflammation in individuals with rare autoinflammatory mevalonate kinase deficiency (MKD) via a unique molecular mechanism, reports a study ...
Allogeneic hematopoietic stem cell transplant appears to be safe and effective for pediatric patients with mevalonate kinase deficiency who respond inadequately to anticytokine drugs, according to ...
SAIDs are a group of multi-system disorders caused by dysfunction in the innate immune system. A number of these SAIDs are mediated by a cytokine called interleukin-1 (IL-1), including the ...