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    Results: 1 to 20 of 215

    1.

    Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

    Haas D, Hoffmann GF.

    Orphanet J Rare Dis. 2006 Apr 26;1:13. Review.PMID: 16722536 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

    Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF.

    Pediatrics. 2003 Feb;111(2):258-61.PMID: 12563048 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    [MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]

    Naruto T.

    Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):86-9. Japanese. PMID: 17473510 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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.PMID: 15188372 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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 1;11(25):3115-24.PMID: 12444096 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Inherited disorders of cholesterol biosynthesis.

    Haas D, Kelley RI, Hoffmann GF.

    Neuropediatrics. 2001 Jun;32(3):113-22. Review.PMID: 11521206 [PubMed - indexed for MEDLINE]Related articles

    7.

    Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

    Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W.

    Rheumatology (Oxford). 2001 May;40(5):579-84.PMID: 11371670 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    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.PMID: 10369261 [PubMed - indexed for MEDLINE]Related articles

    9.

    [Identification of the gene for hyper-IgD syndrome: a model of modern genetics]

    Drenth JP, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, van der Meer JW.

    Ned Tijdschr Geneeskd. 2000 Apr 22;144(17):782-5. Review. Dutch. PMID: 10800545 [PubMed - indexed for MEDLINE]Related articles

    10.

    Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.

    Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, Drenth JP.

    Clin Pharmacol Ther. 2004 May;75(5):476-83.PMID: 15116060 [PubMed - indexed for MEDLINE]Related articles

    11.

    Mevalonate kinase deficiency and Dutch type periodic fever.

    Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, Kuis W.

    Clin Exp Rheumatol. 2000 Jul-Aug;18(4):525-32. Review.PMID: 10949735 [PubMed - indexed for MEDLINE]Related articles

    12.

    Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

    Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP.

    Neurology. 2004 Mar 23;62(6):994-7.PMID: 15037710 [PubMed - indexed for MEDLINE]Related articles

    13.

    Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

    Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL.

    Arthritis Rheum. 2003 Sep;48(9):2645-51.PMID: 13130485 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

    van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A; International HIDS Study Group.

    Medicine (Baltimore). 2008 Nov;87(6):301-10.PMID: 19011501 [PubMed - indexed for MEDLINE]Related articles

    15.

    Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

    Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, et al.

    Pediatrics. 1993 May;91(5):915-21.PMID: 8386351 [PubMed - indexed for MEDLINE]Related articles

    16.

    Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

    Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR.

    Eur J Hum Genet. 2001 Apr;9(4):253-9. Erratum in: Eur J Hum Genet 2001 Aug;9(8):651. PMID: 11313768 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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; International Hyper-IgD Study Group.

    Eur J Hum Genet. 2001 Apr;9(4):260-6.PMID: 11313769 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.

    Simon A, Cuisset L, Vincent MF, van Der Velde-Visser SD, Delpech M, van Der Meer JW, Drenth JP.

    Ann Intern Med. 2001 Sep 4;135(5):338-43.PMID: 11529697 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    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.PMID: 10369262 [PubMed - indexed for MEDLINE]Related articles

    20.

    Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.

    Houten SM, Schneiders MS, Wanders RJ, Waterham HR.

    J Biol Chem. 2003 Feb 21;278(8):5736-43. Epub 2002 Dec 10.PMID: 12477733 [PubMed - indexed for MEDLINE]Related articlesFree article

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