Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency

Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764.

Authors

Nanda M Verhoeven¹, Birthe Roos, Eduard A Struys, Gajja S Salomons, Marjo S van der Knaap, Cornelis Jakobs

Affiliation

¹ Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. N.Verhoeven@vumc.nl

PMID: 14752017
DOI: 10.1373/clinchem.2003.022764

No abstract available

MeSH terms

Cells, Cultured
Child
Clinical Enzyme Tests
Fibroblasts / enzymology
Gas Chromatography-Mass Spectrometry
Guanidinoacetate N-Methyltransferase
Humans
Lymphocyte Activation
Lymphocytes / enzymology
Methyltransferases / blood*
Methyltransferases / deficiency*

Substances

Methyltransferases
Guanidinoacetate N-Methyltransferase