title: Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
authors.affiliation: Department of Metabolic Disorders, University Medical Center Utrecht Het Wilhelmina Kinderziekenhuis, The Netherlands. b.pollthe@wkz.azu.nl
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J
authors.initials: J
authors.lastname: Frenkel
authors.forename: S M
authors.initials: SM
authors.lastname: Houten
authors.forename: W
authors.initials: W
authors.lastname: Kuis
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: T J
authors.initials: TJ
authors.lastname: de Koning
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: M M
authors.initials: MM
authors.lastname: de Barse
authors.forename: G J
authors.initials: GJ
authors.lastname: Romeijn
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
mesh_terms: D000138:Acidosis / Q000150:complications; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications* / Q000503:physiopathology; D007072:Immunoglobulin D / Q000097:blood*; D008798:Mevalonic Acid / Q000652:urine*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*
chemical_list: D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid