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Results: 1 to 20 of 118

1.

Perinatal onset mevalonate kinase deficiency.

Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG.

Pediatr Dev Pathol. 2011 Jul-Aug;14(4):301-6. doi: 10.2350/11-02-0985-OA.1. Epub 2011 Mar 22.

PMID:
21425920
[PubMed - indexed for MEDLINE]
2.

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. doi: 10.1542/peds.2009-1774. Epub 2010 Mar 1.

PMID:
20194276
[PubMed - indexed for MEDLINE]
Free Article
3.

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.

Ruiz Gomez A, Couce ML, Garcia-Villoria J, Torres A, Baña Souto A, Yagüe J, Vilaseca MA, Ribes A, Aróstegui JI.

Pediatrics. 2012 Feb;129(2):e535-9. doi: 10.1542/peds.2010-2192. Epub 2012 Jan 23.

PMID:
22271696
[PubMed - indexed for MEDLINE]
Free Article
4.

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

Prasad C, Salvadori MI, Rupar CA.

Mol Genet Metab. 2012 Dec;107(4):756-9. doi: 10.1016/j.ymgme.2012.10.019. Epub 2012 Oct 24.

PMID:
23146290
[PubMed - indexed for MEDLINE]
5.

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]
6.

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM.

Am J Med Genet. 1998 Aug 6;78(5):408-12.

PMID:
9714005
[PubMed - indexed for MEDLINE]
7.

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD.

J Biol Chem. 1992 Jul 5;267(19):13229-38.

PMID:
1377680
[PubMed - indexed for MEDLINE]
Free Article
8.

Severe early-onset colitis revealing mevalonate kinase deficiency.

Levy M, Arion A, Berrebi D, Cuisset L, Jeanne-Pasquier C, Bader-Meunier B, Jung C.

Pediatrics. 2013 Sep;132(3):e779-83. doi: 10.1542/peds.2012-3344. Epub 2013 Aug 26.

PMID:
23979089
[PubMed - indexed for MEDLINE]
9.

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

Lainka E, Neudorf U, Lohse P, Timmann C, Bielak M, Stojanov S, Huss K, von Kries R, Niehues T.

Rheumatol Int. 2012 Oct;32(10):3253-60. Epub 2011 Oct 30.

PMID:
22038276
[PubMed - indexed for MEDLINE]
10.

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR.

Hum Mol Genet. 1999 Aug;8(8):1523-8.

PMID:
10401001
[PubMed - indexed for MEDLINE]
Free Article
11.

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

van der Burgh R, Ter Haar NM, Boes ML, Frenkel J.

Clin Immunol. 2013 Jun;147(3):197-206. doi: 10.1016/j.clim.2012.09.011. Epub 2012 Oct 4. Review.

PMID:
23110805
[PubMed - indexed for MEDLINE]
12.

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]
13.

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
[PubMed - indexed for MEDLINE]
14.

Biochemical and genetic aspects of mevalonate kinase and its deficiency.

Houten SM, Wanders RJ, Waterham HR.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):19-32. Review.

PMID:
11111075
[PubMed - indexed for MEDLINE]
Free Article
15.

Hyperimmunoglobulin D syndrome in childhood.

van der Hilst JC, Frenkel J.

Curr Rheumatol Rep. 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010-0086-1. Review.

PMID:
20425018
[PubMed - indexed for MEDLINE]
16.

Hyper-IgD syndrome or mevalonate kinase deficiency.

Stoffels M, Simon A.

Curr Opin Rheumatol. 2011 Sep;23(5):419-23. doi: 10.1097/BOR.0b013e328349c3b1. Review.

PMID:
21760510
[PubMed - indexed for MEDLINE]
17.

Allogeneic bone marrow transplantation in mevalonic aciduria.

Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A.

N Engl J Med. 2007 Jun 28;356(26):2700-3.

PMID:
17596604
[PubMed - indexed for MEDLINE]
Free Article
18.

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. doi: 10.1684/ecn.2009.0163. Review.

PMID:
19825518
[PubMed - indexed for MEDLINE]
19.

Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

Thors VS, Vastert SJ, Wulffraat N, van Royen A, Frenkel J, de Sain-van der Velden M, de Koning TJ.

Pediatrics. 2014 Feb;133(2):e461-5. doi: 10.1542/peds.2012-1372. Epub 2014 Jan 27.

PMID:
24470648
[PubMed - indexed for MEDLINE]
20.

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L.

N Engl J Med. 1986 Jun 19;314(25):1610-4.

PMID:
3012338
[PubMed - indexed for MEDLINE]

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