title: Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.
authors.affiliation: Department of Clinical Chemistry, 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: Danielle S M
authors.initials: DS
authors.lastname: Schor
authors.forename: Birthe
authors.initials: B
authors.lastname: Roos
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stöckler-Ipsiroglu
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000579:Amidinotransferases / Q000097:blood* / Q000172:deficiency; D001120:Arginine / Q000378:metabolism; D002247:Carbon Isotopes; D002460:Cell Line; D004796:Clinical Enzyme Tests / Q000379:methods; D005998:Glycine / Q000378:metabolism; D006801:Humans; D007553:Isotope Labeling; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology*; D009587:Nitrogen Isotopes; D012016:Reference Values
chemical_list: D002247:Carbon Isotopes; D009587:Nitrogen Isotopes; D001120:Arginine; D000579:Amidinotransferases; C020681:glycine amidinotransferase; D005998:Glycine