A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

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

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

Jeroen C.H. van der Hilst, Evelien J. Bodar, Karyl S. Barron et al. · Medicine · 2008 · 400 citations · Full text

Medicine, Immunology, Internal Medicine +7

Hyperimmunoglobulinemia D and Periodic Fever Syndrome

Joost P.H. Drenth, C.J. Haagsma, J.W.M. van der Meer · Medicine · 1994 · 396 citations

Life Sciences, Immunology, Internal Medicine +5

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

CHRONIC LOW-LEVEL LEAD EXPOSURE AND MENTAL RETARDATION

Harold S. Zarkowsky, A. Goldberg, M. R. Moore · The Lancet · 1975 · 221 citations

Pharmacy, Environmental Sciences, Toxicology +10