Literature DB >> 10896296

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

S M Houten1, J Frenkel, W Kuis, R J Wanders, B T Poll-The, H R Waterham.   

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Year:  2000        PMID： 10896296     DOI： 10.1023/a:1005687415434

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 in total

1.  Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  B T Poll-The; J Frenkel; S M Houten; W Kuis; M Duran; T J de Koning; L Dorland; M M de Barse; G J Romeijn; R J Wanders; H R Waterham
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

3.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Authors:  J P Drenth; L Cuisset; G Grateau; C Vasseur; S D van de Velde-Visser; J G de Jong; J S Beckmann; J W van der Meer; M Delpech
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

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

Authors:  S M Houten; G J Romeijn; J Koster; R G Gray; P Darbyshire; G P Smit; J B de Klerk; M Duran; K M Gibson; R J Wanders; H R Waterham
Journal:  Hum Mol Genet       Date:  1999-08       Impact factor: 6.150

5.  Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Authors:  D D Hinson; R M Ross; S Krisans; J L Shaw; V Kozich; M O Rolland; P Divry; J Mancini; G F Hoffmann; K M Gibson
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

6.  Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.

Authors:  D D Hinson; K L Chambliss; G F Hoffmann; S Krisans; R K Keller; K M Gibson
Journal:  J Biol Chem       Date:  1997-10-17       Impact factor: 5.157

Review 7.  Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

Authors:  J P Drenth; C J Haagsma; J W van der Meer
Journal:  Medicine (Baltimore)       Date:  1994-05       Impact factor: 1.889

8.  Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.

Authors:  G F Hoffmann; S U Brendel; S R Scharfschwerdt; Y S Shin; I M Speidel; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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

Authors:  B L Schafer; R W Bishop; V J Kratunis; S S Kalinowski; S T Mosley; K M Gibson; R D Tanaka
Journal:  J Biol Chem       Date:  1992-07-05       Impact factor: 5.157

10.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Authors:  G F Hoffmann; C Charpentier; E Mayatepek; J Mancini; M Leichsenring; K M Gibson; P Divry; M Hrebicek; W Lehnert; K Sartor
Journal:  Pediatrics       Date:  1993-05       Impact factor: 7.124
  10 in total
  1 in total

1.  Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  B T Poll-The; J Frenkel; S M Houten; W Kuis; M Duran; T J de Koning; L Dorland; M M de Barse; G J Romeijn; R J Wanders; H R Waterham
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982
  1 in total

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