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A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. The method also appears to be suitable for the evaluation of different(More)
Mevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with clinical variability in 10 patients from 7 families. We sought to define a(More)
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