title: Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
authors.affiliation: II Pediatric Unit Gaslini Institute Genoa, Italy. majadirocco@ospedale-gaslini.ge.it
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: U
authors.initials: U
authors.lastname: Caruso
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
authors.forename: P
authors.initials: P
authors.lastname: Picco
authors.forename: A
authors.initials: A
authors.lastname: Loy
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005334:Fever; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007072:Immunoglobulin D / Q000097:blood*; D008297:Male; D008798:Mevalonic Acid / Q000652:urine; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics
chemical_list: D007070:Immunoglobulin A; D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid