Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

Udo F.H. Engelke, Maria Tassini, Joseph Hayek, Maaike de Vries, Appie Bilos, Antonio Vivi, Gianni Valensin, Sabrina Buoni, Raffaella Zannolli, Wim Brussel, Berry Kremer, Gajja S. Salomons, Monique J.B.M. Veendrick-Meekes, Leo A.J. Kluijtmans, Éva Morava, Ron A. Wevers