[1］ Ensenauer R，Thiel T，Schwab KO，et al.Guanidinoacetate methyltransferase deficiency：differences of creatine uptake in human brain and muscle［J］.Mol Genet Metab，2004，82（3）：208-213.

[2］ Mercimek MS，Stöckler S，Adami A，et al.Clinical，biochemical and molecular features of guanidinoacetate methyltransferase deficiency［J］.Neurology，2006，67（3）：480-484.

[3］ Stöckler S，Holzbach U，Hanefeld F，et al.Creatine deficiency in the brain：a new treatable inborn error of metabolism［J］.Pediatr Res，1994，36（3）：409-413.

[4］ Dhar SU，Scaglia F，Li FY，et al.Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase（GAMT）deficiency［J］.Mol Genet Metab，2009，96（1）：38-43.

[5］ O’Rourke DJ，Ryan S，Salomons G，et al.Guanidinoacetate methyltransferase （GAMT） deficiency：late onset of movement disorder and preserved expressive language［J］.Dev Med Child Neurol，2009，51（5）：404-407.

[6］ Bianchi MC，Tosetti M，Fornai F，et al.Reversible brain creatine deficiency in two sisters with normal blood creatine level［J］.Ann Neurol，2002，47（4）：511-513.

[7］ Item CB，Stöckler S，Stromberger C，et al.Arginine：glycine amindinotransferase （AGAT） deficiency： the third inborn error of creatine metabolism in humans［J］.Am J Hum Genet，2001，69（5）：1127-1133.

[8］ Battini R，Leuzzi V，Carducci C，et al.Creatine depletion in a new case with AGAT deficiency： clinical and genetic study in a large pedigree［J］.Mol Genet Metab，2002，77（4）：326-331.

[9］ Battini R， Alessandri MG， Leuzzi V， et al. Arginine： glycine amidinotransferase （AGAT） deficiency in a newborn：early treatment can prevent phenotypic expression of the disease［J］.J Pediatr，2006，148（6）：828-830.

[10］ Johnston K，Plawner L，Cooper L，et al.The second family with AGAT deficiency （creatine biosynthesis defect）：diagnosis，treatment and the first prenatal diagnosis （abstract）［C］//Proceedings of the annual meeting of the American Society of Human Genetics，Salt Lake City：Utah，2005：58.

[11］ Edvardson S，Korman SH，Livne A，et al. l-Arginine：glycine amidinotransferase （AGAT） deficiency：clinical presentation and response to treatment in two patients with a novel mutation［J］.Mol Genet Metab，2010，101（2/3）：228-232.

[12］ Salomons GS，Dooren v SJ，Verhoeven NM，et al.X-Linked creatine-transporter gene （SLC6A8 ） defect：a new creatine-deficiency syndrome［J］.Am J Hum Genet，2001，68（6）：1497-1500.

[13］ Van de kamp JM，Betsalel OT，Mercimek MS，et al.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency［J］.J Med Genet，2013，50（7）：463-472.

[14］ Mancini GM，Catsman-Berrevoets CE，de Coo IF，et al.Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families［J］.Am J Med Genet，2005，132（3）：288-295.

[15］ Anselm IA，Coulter DL，Darras BT.Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8［J］.Neurology，2008，29（70）：1642-1644.

[16］ Fons C，Sempere A，Sanmartí FX，et al.Epilepsy spectrum in cerebral creatine transporter deficiency［J］.Epilepsia，2009，50（9）：2168-2170.

[17］ Mancardi MM，Caruso U，Schiaffino MC，et al.Severe epilepsy in X-linked creatine transporter defect（CRTR-D） ［J］.Epilepsia，2007，48（6）：1211-1213.

[18］ Mercimek-Mahmutoglu S，Connolly MB，Poskitt K，et al.Treatment of intractable epilepsy in a female with SLC6A8 deficiency［J］.Mol Genet Metab，2010，101（4）：409-412.

[19］ Kampvd JM，Mancini GM，Pouwels PJ，et al.Clinical features and X-inactivation in females heterozygous for creatine transporter defect［J］.Clin Genet，2011，79（3）：264-272.

[20］ Clark AJ，Rosenberg EH，Almeida LS，et al.X-Linked creatine transporter （SLC6A8） mutations in about 1% of males with mental retardation of unknown etiology［J］.Hum Genet，2006，119（6）：604-610.

[21］ Lion-Francois L，Cheillan D，Pitelet G，et al.High frequency of creatine deficiency syndromes in patients with unexplained mental retardation［J］.Neurology，2006，67（9）：1713-1714.

[22］ Comeaux MS，Wang J，Wang G，et al.Biochemical molecular，and clinical diagnoses of patients with cerebral creatine deficiency syndromes［J］.Mol Genet Metab，2013，109（3）：260-268.

[23］ Carducci C，Santagata S，Leuzzi V，et al.Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry［J］.Clin Chim Acta，2006，364 （1/2）：180-187.

[24］ Mercimek MS，Muehl A，Salomons GS，et al.Screening for X-linked creatine transporter （SLC6A8） deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry［J］.Mol Genet Metab，2009，96（4）：273-275.

[25］ Verhoeven NM，Roos B，Struys EA，et al.Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency［J］.Clin Chem，2004，50（2）：441-443.

[26］ Rosenberg EH，Martínez Muñoz C，Betsalel OT，et al.Functional characterization of missense variants in the creatine transporter gene （SLC6A8 ）：improved diagnostic application［J］.Hum Mutat，2007，28（9）：890-896.

[27］ Cheillan D，Salomons GS，Acquaviva C，et al.Prenatal diagnosis of guanidinoacetate methyltransferase deficiency：increased guanidinoacetate concentrations in amniotic fluid［J］.Clin Chem，2006，52（4）：775-777.

[28］ Arias A， Corbella M， Fons C， et al. Creatine transporter deficiency：prevalence among patients with mental retardation and pitfalls in metabolite screening［J］.Clin Biochem，2007，40：1328-1331.

[29］ Schulze A， Hoffmann GF， Bachert P， et al. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency［J］.Neurology，2006，67（4）：719-721.