G. J. Romeijn

Statistics

Publications

Citations

1.1K

H-Index

Active since

1995

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

Emma Kinderziekenhuis

Wilhelmina Children's Hospital

Beatrix Kinderziekenhuis

G. J. Romeijn is an author at Amsterdam UMC Location University of Amsterdam specializing in life sciences, metabolism, and cholesterol biosynthesis disorders.

Publications per year

1995–2003

Publications

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

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 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 65 citations

Life Sciences, Genetics, Molecular Biology +16

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

Life Sciences, Biochemistry, Cellular Metabolism +15

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

Medicine, Pediatrics, Human Genetics +16

1–5 of 9