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Creatine deficiency syndromes and the importance of creatine synthesis in the brain

✍ Scribed by Olivier Braissant; Hugues Henry; Elidie Béard; Joséphine Uldry

Book ID
106222333
Publisher
Springer
Year
2011
Tongue
English
Weight
350 KB
Volume
40
Category
Article
ISSN
0939-4451

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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