Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Joost P.H. Drenth, Laurence Cuisset, Gilles Grateau et al. · Nature Genetics · 1999 · 557 citations

Life Sciences, Genetics, Molecular Genetics +8

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

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

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

Marco Gattorno, Maria Pia Sormani, Andrea D’Osualdo et al. · Arthritis & Rheumatism · 2008 · 190 citations

Medicine, Molecular Genetics, Pediatrics +15