Is ATP elevated in patients with GAMT deficiency?
Renema
W K J
WK
Kan
H E
HE
Heerschap
A
A
D000579:Amidinotransferases / Q000172:deficiency; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003401:Creatine / Q000172:deficiency* / Q000627:therapeutic use*; D016903:Drug Monitoring / Q000379:methods; D005260:Female; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000178:diet therapy / Q000188:drug therapy* / Q000378:metabolism*; D010759:Phosphorus Isotopes; D011522:Protons
D010759:Phosphorus Isotopes; D011522:Protons; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D000579:Amidinotransferases; C020681:glycine amidinotransferase; D003401:Creatine