Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
Verhoeven
Nanda M
NM
Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. N.Verhoeven@vumc.nl
Roos
Birthe
B
Struys
Eduard A
EA
Salomons
Gajja S
GS
van der Knaap
Marjo S
MS
Jakobs
Cornelis
C
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*
D008780:Methyltransferases; D050937:Guanidinoacetate N-Methyltransferase