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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Publicado en:JIMD Rep
Main Authors: Jeyaratnam, Jerold, ter Haar, Nienke M., de Sain-van der Velden, Monique G. M., Waterham, Hans R., van Gijn, Mariëlle E., Frenkel, Joost
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2015
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Article
Acceso en liña: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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