Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography–tandem mass spectrometry in urine, plasma and CSF
Keywords: AGAT, Arginine:glycine amidinotransferase; GAMT, S-Adenosylmethionine:guanidinoacetate N-methyltransferase; CrT, Creatine transporter; GAA, Guanidinoacetate; CT, Creatine; LC–MS/MS, Liquid chromatography–tandem mass spectrometry; CTN, Creatinine; CSF, Cer