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Epilepsy spectrum in cerebral creatine transporter deficiency

✍ Scribed by Carmen Fons; Ángela Sempere; Francesc X. Sanmartí; Ángela Arias; Pilar Póo; Mercedes Pineda; Antonia Ribes; Begoña Merinero; Maria A. Vilaseca; Gajja S. Salomons; Rafael Artuch; Jaume Campistol

Book ID
109111287
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
118 KB
Volume
50
Category
Article
ISSN
0013-9580

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Creatine transporter deficiency in two h
Creatine transporter deficiency in two half-brothers
✍ Orly Ardon; Cristina Amat di San Filippo; Gajja S. Salomons; Nicola Longo 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

## Abstract X‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the __SLC6A8__ gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with