title: Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
authors.affiliation: Department of Pediatrics, University Hospital and General Hospital (AKH), Währingerstrasse 18-20, A-1090 Vienna, Austria.
authors.forename: Chike B
authors.initials: CB
authors.lastname: Item
authors.forename: Carmen
authors.initials: C
authors.lastname: Stromberger
authors.forename: Adolf
authors.initials: A
authors.lastname: Mühl
authors.forename: Claudia
authors.initials: C
authors.lastname: Edlinger
authors.forename: Olaf A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: Andreas
authors.initials: A
authors.lastname: Schulze
authors.forename: Robert
authors.initials: R
authors.lastname: Surtees
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stöckler-Ipsiroglu
mesh_terms: D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D008780:Methyltransferases / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D008780:Methyltransferases; D050937:Guanidinoacetate N-Methyltransferase