Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.

Ilas, J

Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Jan 2000 - 179-88 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0009-8981

10.1016/s0009-8981(99)00182-5 doi


Amniotic Fluid--cytology
Cells, Cultured
Chromatography, High Pressure Liquid
Creatine--analysis
Female
Fetal Diseases--diagnosis
Fibroblasts--enzymology
Glycine--analogs & derivatives
Guanidinoacetate N-Methyltransferase
Humans
Lymphocytes--enzymology
Male
Metabolism, Inborn Errors--diagnosis
Methyltransferases--analysis
Pregnancy
Prenatal Diagnosis--methods
S-Adenosylmethionine--metabolism
Skin--enzymology