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REFERENCES

  • Leuzzi V. (2002) Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis and treatment. Journal of Child Neurology 17:3S893S97.
  • Mancini GMS, Catsman-Berrevoets CEC, De Coo IFM, Aarsen FK, Kamphoven JHJ, Huijmans JG, Duran M, Van Der Knaap MS, Jakobs C, Salomons GS. (2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. American Journal of Medical Genetics 132(3):288295.
  • Rosenberg EH. Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, DeGrauw TJ, Jakobs C, Salomons GS. (2004) High Prevalence of SLC6A8Deficiency in X-Linked Mental Retardation. American Journal of Human Genetics 75(1): 97105.