Temperature and Drug Treatments in Mevalonate Kinase Deficiency: An Ex Vivo Study

Mevalonate Kinase Deficiency (MKD) is a rare autosomal recessive inborn disorder of cholesterol biosynthesis caused by mutations in the mevalonate kinase (MK) gene, leading to MK enzyme decreased activity. The consequent shortage of mevalonate-derived isoprenoid compounds results in an inflammatory...

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Main Authors: Tricarico, Paola Maura, Kleiner, Giulio, Piscianz, Elisa, Zanin, Valentina, Monasta, Lorenzo, Crovella, Sergio, Marcuzzi, Annalisa
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773414/
https://ncbi.nlm.nih.gov/pubmed/24073415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/715465
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