Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

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

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME

JosW.M. Van Der Meer, J Rádl, ChrisJ.L.M. Meyer et al. · The Lancet · 1984 · 330 citations

Life Sciences, Hematology, Immunology +11

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek et al. · PEDIATRICS · 1993 · 291 citations

Life Sciences, Biochemistry, Clinical Biochemistry +12

Mevalonate Kinase Deficiency: A Survey of 50 Patients

Brigitte Bader‐Meunier, Benoît Florkin, Jean Sibilia et al. · PEDIATRICS · 2011 · 218 citations

Medicine, Immunology, Molecular Medicine +12

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

Laurence Cuisset, Joost P.H. Drenth, Anna Simon et al. · European Journal of Human Genetics · 2001 · 213 citations

Life Sciences, Genetics, Molecular Genetics +9