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Inborn Metabolic Diseases Diagnosis and Treatment - part 5

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hội chứng lâm sàng của thiếu hụt vận chuyển creatine. Mol di Biochem 244:45-48 23. Hahn KA, Salomons GS, Tackels Horne D et al (2002) X-chậm phát triển tâm thần liên quan với cơn động kinh và các biểu hiện tàu sân bay được gây ra bởi một đột biến gen creatine vận chuyển | 217 16 References 22. deGrauw TJ Cecil KM Byars AW et al 2003 The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 244 45-48 23. Hahn KA Salomons GS Tackels-Horne D et al 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene SLC6A8 located in Xq28. Am J Hum Genet 70 1349-1356 24. Salomons GS van Dooren SJ Verhoeven NM et al 2003 X-linked creatine transporter defect an overview. J Inherit Metab Dis 26 309318 25. Rosenberg EH Almeida LS Kleefstra T et al 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 75 97-105 26. Cecil KM DeGrauw TJ Salomons GS et al 2003 Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr 27 44-47 27. Salomons GS Wyss M Jakobs C 2004 Creatine. In Coats PM ed Encyclopedia of dietary supplements. Dekker New York pp 151158 28. Stockler S Marescau B De Deyn PP et al 1997 Guanidino compounds in guanidinoacetate methyltransferase deficiency a new inborn error of creatine synthesis. Metabolism 46 1189-1193 29. Item CB Stromberger C Muhl A et al 2002 Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem 48 767-769 30. Item CB Mercimek-Mahmutoglu S Battini R et al 2004 Characterisation of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat 23 524 31. Carducci C Leuzzi V Carducci C et al 2000 Two new severe mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab 71 633-638 32. Almeida LS Verhoeven NM Roos B et al 2004 Creatine and guanidinoacetate diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82 214-219 33. Cognat S Cheillan D Piraud M et al 2004 Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass .