Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_489
Reference16 articles.
1. Ammouri W, Cuisset L, Rouaghe S et al (2007) Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 46:1597–1600
2. Bader-Meunier B, Florkin B, Sibilia J et al (2011) Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 128:e152–e159
3. Berger R, Smit GP, Schierbeek H et al (1985) Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta 152:219–222
4. van der Burgh R, Ter Haar NM, Boes ML et al (2013) Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol 147:197–206
5. Cuisset L, Drenth JP, Simon A et al (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 9:260–266
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