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Items: 1 to 20 of 107

1.

A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.

Farber CM, Wanders JA, Goffard JC, Parma J.

Acta Clin Belg. 2011 Mar-Apr;66(2):129-31.

PMID:
21630610
2.

Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.

Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D.

Rheumatol Int. 2013 Dec;33(12):3039-42. doi: 10.1007/s00296-012-2577-z. Epub 2012 Dec 13.

PMID:
23239036
3.

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.

Berody S, Galeotti C, Koné-Paut I, Piram M.

Joint Bone Spine. 2015 Jul;82(4):240-4. doi: 10.1016/j.jbspin.2014.12.011. Epub 2015 Feb 9.

PMID:
25677409
4.

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. Epub 2007 Sep 5.

5.

"Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name?

Celsi F, Tommasini A, Crovella S.

Rheumatol Int. 2014 Mar;34(3):423-4. doi: 10.1007/s00296-013-2702-7. Epub 2013 Feb 15. No abstract available.

PMID:
23412692
6.

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.

Santos JA, Aróstegui JI, Brito MJ, Neves C, Conde M.

Gene. 2014 Jun 1;542(2):217-20. doi: 10.1016/j.gene.2014.03.031. Epub 2014 Mar 18.

PMID:
24656624
7.

[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease].

Gava A, Furlan A, Navaglia F, Miorin M, Razetti M, Basso D, Plebani M, Punzi L.

Reumatismo. 2009 Jul-Sep;61(3):187-96. Italian.

8.

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
9.

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.

Parvaneh N, Ziaee V, Moradinejad MH, Touitou I.

J Clin Immunol. 2014 Jan;34(1):123-6. doi: 10.1007/s10875-013-9955-5. Epub 2013 Nov 1.

PMID:
24177804
10.

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
11.

B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.

Sornsakrin M, Wenner K, Ganschow R.

Eur J Pediatr. 2009 Jul;168(7):825-31. doi: 10.1007/s00431-008-0843-6. Epub 2008 Oct 7.

PMID:
18839211
12.

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. doi: 10.1097/MD.0b013e318190cfb7.

13.

Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).

Hager EJ, Piganelli JD, Tse HM, Gibson KM.

J Inherit Metab Dis. 2012 Jan;35(1):159-68. doi: 10.1007/s10545-011-9349-x. Epub 2011 May 24.

14.

Hyper-IgD syndrome with novel mutation in a Japanese girl.

Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S.

Mod Rheumatol. 2009;19(1):96-9. doi: 10.1007/s10165-008-0130-4. Epub 2008 Oct 22.

PMID:
18941711
15.

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.

Browne C, Timson DJ.

Ann Hum Genet. 2015 Nov;79(6):451-9. doi: 10.1111/ahg.12126. Epub 2015 Sep 29.

PMID:
26420133
16.

[Hyperimmunoglobulinemia D and periodic fever syndrome].

Agbo-kpati KP, Condor R, Hollenberg H, Chalvon Demersay A, Cuisset L, Quartier P.

Arch Pediatr. 2014 Jul;21(7):765-7. doi: 10.1016/j.arcped.2014.04.024. Epub 2014 Jun 13. French.

PMID:
24935455
17.

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
18.

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.

19.

Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.

Tahara M, Sakai H, Nishikomori R, Yasumi T, Heike T, Nagata I, Inui A, Fujisawa T, Shigematsu Y, Nishijima K, Kuwakado K, Watabe S, Kameyama J.

Mod Rheumatol. 2011 Dec;21(6):641-5. doi: 10.1007/s10165-011-0442-7. Epub 2011 Mar 12.

PMID:
21399979
20.

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

Gençpınar P, Makay BB, Gattorno M, Caroli F, Ünsal E.

Turk J Pediatr. 2012 Nov-Dec;54(6):641-4. Review.

PMID:
23692791
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