title: Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
authors.affiliation: Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. N.Verhoeven@vumc.nl
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: Birthe
authors.initials: B
authors.lastname: Roos
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D002478:Cells, Cultured; D002648:Child; D004796:Clinical Enzyme Tests; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology; D008780:Methyltransferases / Q000097:blood* / Q000172:deficiency*
chemical_list: D008780:Methyltransferases; D050937:Guanidinoacetate N-Methyltransferase