Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

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 suspicio...

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Bibliografiska uppgifter
I publikationen:JIMD Rep
Huvudupphovsmän: Jeyaratnam, Jerold, ter Haar, Nienke M., de Sain-van der Velden, Monique G. M., Waterham, Hans R., van Gijn, Mariëlle E., Frenkel, Joost
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867845/
https://ncbi.nlm.nih.gov/pubmed/26409462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_489
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