Creatine transporter deficiency in two h
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Orly Ardon; Cristina Amat di San Filippo; Gajja S. Salomons; Nicola Longo
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Article
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2010
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John Wiley and Sons
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English
β 174 KB
## Abstract Xβlinked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the __SLC6A8__ gene. Here, we report two halfβbrothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with