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pro vyhledávání: '"Jacquelyn C. Greenfield"'
Autor:
Stephen G. Kaler, Anthony Donsante, Jacquelyn C. Greenfield, Susumu Sato, Julia D. Hicks, Clarissa J. Liew
Publikováno v:
Journal of Inherited Metabolic Disease. 33:583-589
Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase. Three prior surveys indicated clinical seizures and electroencephalog