title: Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
authors.affiliation: University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: R A
authors.initials: RA
authors.lastname: Donckerwolcke
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: L
authors.initials: L
authors.lastname: Dorland
mesh_terms: D002806:Chondrodysplasia Punctata / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism* / Q000628:therapy; D008830:Microbodies / Q000378:metabolism* / Q000473:pathology; D008854:Microscopy, Electron; D010831:Phytanic Acid / Q000097:blood*; D010955:Plasmalogens / Q000096:biosynthesis*; D010956:Plasmapheresis
chemical_list: D010955:Plasmalogens; D010831:Phytanic Acid