Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.
作者信息
Doccini Stefano, Sartori Stefano, Maeser Stefan, Pezzini Francesco, Rossato Sara, Moro Francesca, Toldo Irene, Przybylski Michael, Santorelli Filippo M, Simonati Alessandro
机构信息
Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.
Child Neurology, Paediatric University Hospital, Padua, Italy.
出版信息
J Neurol. 2016 May;263(5):1029-1032. doi: 10.1007/s00415-016-8111-6. Epub 2016 Apr 12.
PMID:27072142
Abstract
摘要
Zotero 插件