A multicentric translational research study carried out by groups of the Bellvitge Biomedical Research Institute (IDIBELL), Sant Joan de Déu Hospital (HSJD) , the University of Barcelona (UB), Hospital Clínic (IDIBAPS), the University of Vic (UVic), Sant Pau i la Santa Creu Hospital (IIB Sant Pau), the Rare Diseases Networking Biomedical Research Centre (CIBERER) and the Commissariat à l'Énergie Atomique (CEA, France), has demonstrated the potential of the amino acid L-serine—administered as a dietary supplement—to improve the neuronal function of a patient with a mutation of glutamate receptors associated with atypical Rett syndrome with severe encephalopathy.
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