Mevalonic Aciduria in 12 Unrelated Patients with Hyperimmunoglobulinaemia D and Periodic Fever Syndrome

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2000 Jul 15

PMID 10896295

Citations 7

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

Affiliations

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References

De Klerk J, Duran M, Dorland L, Brouwers H, Bruinvis L, Ketting D . A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. J Inherit Metab Dis. 1988; 11 Suppl 2:233-6. DOI: 10.1007/BF01804244. View

Hoffmann G, Brendel S, Scharfschwerdt S, Shin Y, Speidel I, Gibson K . Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis. 1992; 15(5):738-46. DOI: 10.1007/BF01800016. View

Lindenthal B, Simatupang A, Dotti M, Federico A, Lutjohann D, von Bergmann K . Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis. J Lipid Res. 1996; 37(10):2193-201. View

Drenth J, Haagsma C, van der Meer J . Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 1994; 73(3):133-44. View

Houten S, Frenkel J, Kuis W, Wanders R, Poll-The B, Waterham H . Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. J Inherit Metab Dis. 2000; 23(4):367-70. DOI: 10.1023/a:1005687415434. View