Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
Sofía Illescas,
Yaiza Diaz‐Osorio,
Anna Serradell
et al.
Abstract:The study of inborn errors of neurotransmission has been mostly focused on monoamine disorders, GABAergic and glycinergic defects. The study of the glutamatergic synapse using the same approach than classic neurotransmitter disorders is challenging due to the lack of biomarkers in the CSF. A metabolomic approach can provide both insight into their molecular basis and outline novel therapeutic alternatives. We have performed a semi‐targeted metabolomic analysis on CSF samples from 25 patients with neurogenetic … Show more
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