The clinical syndrome of creatine transporter deficiency
β Scribed by Ton J. De Grauw; Kim M. Cecil; Anna W. Byars; Gajja S. Salomons; William S. Ball; Cornelis Jakobs
- Book ID
- 110420666
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 110 KB
- Volume
- 244
- Category
- Article
- ISSN
- 0300-8177
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This work examined nine patients with creatine deficiency syndrome (CDS): six with a creatine transport (CRTR) defect and three with a GAMT defect. Eleven nucleotide variations were detected: six in SLC6A8 and five in GAMT. These changes were analyzed at the mRNA level and specific alleles (most of
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