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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...
Autores principales: | Tricarico, Paola Maura, Kleiner, Giulio, Piscianz, Elisa, Zanin, Valentina, Monasta, Lorenzo, Crovella, Sergio, Marcuzzi, Annalisa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773414/ https://www.ncbi.nlm.nih.gov/pubmed/24073415 http://dx.doi.org/10.1155/2013/715465 |
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