A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
Keywords: GAMT, guanidinoacetate methyltransferase; GAA, guanidinoacetate; EGFP, enhanced green fluorescent protein; GABA, gamma amino butyric acid; 1H-MRS, proton magnetic resonance spectroscopy; CSF, cerebral spinal fluid; GDD, global developmental delay; CNS, ce