Results 111 to 115 of about 1,441 (115)

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

American Journal of Medical Genetics, Part A, 2007
Roberta Battini, Anna Maria Chilosi, Davide Mei   +2 more
exaly  

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

European Journal of Human Genetics, 2010
Efraim H Rosenberg, Charles E Schwartz, Vassili Valayannopoulos   +2 more
exaly  

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts

Journal of Inherited Metabolic Disease, 2006
Efraim H Rosenberg, Ton J Degrauw
exaly  

Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes

Biological and Pharmaceutical Bulletin
Ryuta Jomura, Yuma Tega, Shin-Ichi Akanuma   +2 more
exaly  

Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations

Epileptic Disorders
Xi Peng
exaly