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2. Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review. Touitou I Genes Dis; 2022 Jul; 9(4):1000-1007. PubMed ID: 35685471 [TBL] [Abstract][Full Text] [Related]
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11. Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. Peciuliene S; Burnyte B; Gudaitiene R; Rusoniene S; Drazdiene N; Liubsys A; Utkus A Pediatr Rheumatol Online J; 2016 Mar; 14(1):19. PubMed ID: 27012807 [TBL] [Abstract][Full Text] [Related]
12. Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity. Reitzle L; Maier B; Stojanov S; Teupser D; Muntau AC; Vogeser M; Gersting SW Clin Biochem; 2015 Aug; 48(12):781-7. PubMed ID: 25982894 [TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Cuisset L; Drenth JP; Simon A; Vincent MF; van der Velde Visser S; van der Meer JW; Grateau G; Delpech M; Eur J Hum Genet; 2001 Apr; 9(4):260-6. PubMed ID: 11313769 [TBL] [Abstract][Full Text] [Related]
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16. Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. Kellner U; Stöhr H; Weinitz S; Farmand G; Weber BHF Ophthalmic Genet; 2017; 38(4):340-344. PubMed ID: 28095071 [TBL] [Abstract][Full Text] [Related]
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