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- W2514676106 abstract "Objective: In patients suffering from mevalonate kinase deficiency (MKD), the reduced enzyme activity leads to an accumulation of mevalonic acid which is excreted in the urine. This study aims to evaluate the diagnostic value of urinary mevalonic acid measurement in patients with a clinical suspicion of mevalonate kinase deficiency." @default.
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- W2514676106 date "2015-09-28" @default.
- W2514676106 modified "2023-09-25" @default.
- W2514676106 title "Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)" @default.
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- W2514676106 doi "https://doi.org/10.1186/1546-0096-13-s1-o57" @default.
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