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pro vyhledávání: '"Lorenzo Dadà"'
Autor:
Elsa Ghirardini, Giulia Sagona, Angel Marquez-Galera, Francesco Calugi, Carmen M. Navarron, Francesco Cacciante, Siwei Chen, Federica Di Vetta, Lorenzo Dadà, Raffaele Mazziotti, Leonardo Lupori, Elena Putignano, Pierre Baldi, Jose P. Lopez-Atalaya, Tommaso Pizzorusso, Laura Baroncelli
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-17 (2023)
Abstract Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intellectua
Externí odkaz:
https://doaj.org/article/3f49e5cb2fdd44aa8c6228ed37b9bcba
