BianchiMCTosettiM: Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann Neurol47: 511–513, 2000.
2.
CecilKMSalomonsGS: Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?Ann Neurol49: 401–404, 2001.
3.
GanesanVJohnsonA: Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol17:155–157, 1997.
4.
ItemCBStockler-IpsirogluS: Arginine: glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet69: 1127–1133, 2001.
SalomonsGSvan DoorenSJM: X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet681497–1500, 2001.
7.
SchulzeAHessT: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr131: 626–631, 1997.
8.
StockierSHolzbachU: Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res36: 409–413, 1994.
