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Description
Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model

Cell Death Differ 14(9):1667-1677, 2007

The final diagnosis can be made through genetic analysis (to prove the mutation(s)) or through measurement of the carnitine transport in fibroblasts, isolated from a skin biopsy

If administration becomes stressful, the cost can show up on the coat quickly
