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2. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. D'Osualdo A; Picco P; Caroli F; Gattorno M; Giacchino R; Fortini P; Corona F; Tommasini A; Salvi G; Specchia F; Obici L; Meini A; Ricci A; Seri M; Ravazzolo R; Martini A; Ceccherini I Eur J Hum Genet; 2005 Mar; 13(3):314-20. PubMed ID: 15536479 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. Samkari A; Borzutzky A; Fermo E; Treaba DO; Dedeoglu F; Altura RA Pediatrics; 2010 Apr; 125(4):e964-8. PubMed ID: 20194276 [TBL] [Abstract][Full Text] [Related]
5. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Houten SM; van Woerden CS; Wijburg FA; Wanders RJ; Waterham HR Eur J Hum Genet; 2003 Feb; 11(2):196-200. PubMed ID: 12634869 [TBL] [Abstract][Full Text] [Related]
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7. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Stojanov S; Lohse P; Lohse P; Hoffmann F; Renner ED; Zellerer S; Kéry A; Shin YS; Haas D; Hoffmann GF; Belohradsky BH Arthritis Rheum; 2004 Jun; 50(6):1951-8. PubMed ID: 15188372 [TBL] [Abstract][Full Text] [Related]
8. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Ammouri W; Cuisset L; Rouaghe S; Rolland MO; Delpech M; Grateau G; Ravet N Rheumatology (Oxford); 2007 Oct; 46(10):1597-600. PubMed ID: 17804452 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Drenth JP; Cuisset L; Grateau G; Vasseur C; van de Velde-Visser SD; de Jong JG; Beckmann JS; van der Meer JW; Delpech M Nat Genet; 1999 Jun; 22(2):178-81. PubMed ID: 10369262 [TBL] [Abstract][Full Text] [Related]
10. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Houten SM; Kuis W; Duran M; de Koning TJ; van Royen-Kerkhof A; Romeijn GJ; Frenkel J; Dorland L; de Barse MM; Huijbers WA; Rijkers GT; Waterham HR; Wanders RJ; Poll-The BT Nat Genet; 1999 Jun; 22(2):175-7. PubMed ID: 10369261 [TBL] [Abstract][Full Text] [Related]
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13. 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]
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16. Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation. Normand S; Massonnet B; Delwail A; Favot L; Cuisset L; Grateau G; Morel F; Silvain C; Lecron JC Eur Cytokine Netw; 2009 Sep; 20(3):101-7. PubMed ID: 19825518 [TBL] [Abstract][Full Text] [Related]
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18. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Houten SM; Frenkel J; Rijkers GT; Wanders RJ; Kuis W; Waterham HR Hum Mol Genet; 2002 Dec; 11(25):3115-24. PubMed ID: 12444096 [TBL] [Abstract][Full Text] [Related]
19. Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. Munoz MA; Jurczyluk J; Simon A; Hissaria P; Arts RJW; Coman D; Boros C; Mehr S; Rogers MJ Front Immunol; 2019; 10():1900. PubMed ID: 31474985 [TBL] [Abstract][Full Text] [Related]
20. Evolutionary hypothesis of the Mevalonate Kinase Deficiency. Vuch J; Marcuzzi A; Bianco AM; Tommasini A; Zanin V; Crovella S Med Hypotheses; 2013 Jan; 80(1):67-9. PubMed ID: 23168296 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]