Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.
Verhoeven
Nanda M
NM
Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. N.Verhoeven@vumc.nl
Schor
Danielle S M
DS
Roos
Birthe
B
Battini
Roberta
R
Stöckler-Ipsiroglu
Sylvia
S
Salomons
Gajja S
GS
Jakobs
Cornelis
C
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
D002247:Carbon Isotopes; D009587:Nitrogen Isotopes; D001120:Arginine; D000579:Amidinotransferases; C020681:glycine amidinotransferase; D005998:Glycine