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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. Houten, J. Frenkel, W. Kuis, R. J. A. Wanders and B. T. Poll-The, et al.
Journal of Inherited Metabolic Disease, 2000, Volume 23, Number 4, Pages 367-370
Journal Article
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
M. Tsimaratos, I. Kone-Paut, P. Divry, N. Philip and B. Chabrol
Journal of Inherited Metabolic Disease, 2001, Volume 24, Number 3, Pages 413-414
Journal Article
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
E. J. Hager, H. M. Tse, J. D. Piganelli, M. Gupta and M. Baetscher, et al.
Journal of Inherited Metabolic Disease, 2007, Volume 30, Number 6, Pages 888-895
Book Chapter
Disorders of Cholesterol Synthesis
Hans Waterham and Peter Clayton
2006, Inborn Metabolic Diseases, VII, Pages 411-420
Book Chapter
Periodic Syndromes
John G. Ryan and Daniel L. Kastner
2008, Primer on the Rheumatic Diseases, Pages 460-469
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Crescentic glomerulonephritis is part of hyperimmunoglobulinemia D syndrome
Mathilde Cailliez, Florentine Garaix, Caroline Rousset-Rouvière, Daniele Bruno and Laurent Daniel, et al.
Pediatric Nephrology, 2006, Volume 21, Number 12, Pages 1917-1918
Journal Article
Isoprenoids: Remarkable diversity of form and function
Sarah A. Holstein and Raymond J. Hohl
Lipids, 2004, Volume 39, Number 4, Pages 293-309
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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis and M. Duran, et al.
Journal of Inherited Metabolic Disease, 2000, Volume 23, Number 4, Pages 363-366
Journal Article
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up
Rezan Topaloğlu, Nuray Aktay Ayaz, Hans R. Waterham, Aysel Yüce and Fatma Gumruk, et al.
Clinical Rheumatology, 2008, Volume 27, Number 10, Pages 1317-1320
Journal Article
Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome—a rare disease with a new symptom
Sven Armbrust, Joost P. H. Drenth, Carmen Schröder, Ester Domning and Ernestine Poeschl, et al.
European Journal of Pediatrics, 2005, Volume 164, Number 6, Pages 391-394