title: Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
authors.affiliation: Institute of Child Health, London, UK.
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: D C
authors.initials: DC
authors.lastname: Kalter
authors.forename: D J
authors.initials: DJ
authors.lastname: Atherton
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
authors.forename: D M
authors.initials: DM
authors.lastname: Broadhead
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008830:Microbodies / Q000201:enzymology*; D012016:Reference Values; D012867:Skin / Q000201:enzymology; D014960:X Chromosome
chemical_list: D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase