Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry

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

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis

Georg F. Hoffmann, K. Michael Gibson, Ira K. Brandt et al. · New England Journal of Medicine · 1986 · 200 citations

Life Sciences, Biochemistry, Cellular Metabolism +7

Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways

Debra D. Hinson, Ken L. Chambliss, Matthew J. Toth et al. · Journal of Lipid Research · 1997 · 125 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Bernd Schäfer, R W BISHOP, V.J. Kratunis et al. · Journal of Biological Chemistry · 1992 · 110 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +8

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.

Lenka Biardi, Amere Subbarao Sreedhar, A. Zokaei et al. · Journal of Biological Chemistry · 1994 · 88 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14