G. J. Romeijn

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 · 520 citations

Cause Hyperimmunoglobulinaemia D, Periodic Fever Syndrome, Autoimmune Disease +11

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn et al. · The American Journal of Human Genetics · 2001 · 351 citations · Full text

Cholesterol Biosynthesis, Biosynthesis, Oxysterol +10

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Sander M. Houten, G. J. Romeijn, Janet Koster et al. · Human Molecular Genetics · 1999 · 64 citations

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

Sietske Hogenboom, G. J. Romeijn, Sander M. Houten et al. · Journal of Lipid Research · 2002 · 50 citations · Full text

Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome

F A Langius, Hans R. Waterham, G. J. Romeijn et al. · American Journal of Medical Genetics Part A · 2003 · 30 citations