Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism. [electronic resource]
Producer: 20000217Description: 179-88 p. digitalISSN:- 0009-8981
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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