Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.
R J
RJ
Wanders
G J
GJ
Romeijn
D002478:Cells, Cultured; D002784:Cholesterol / Q000096:biosynthesis*; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008830:Microbodies; D018901:Peroxisomal Disorders / Q000201:enzymology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*; D015211:Zellweger Syndrome / Q000201:enzymology*
D002784:Cholesterol; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase