Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease

• Main Authors: Kevin Hammon (Author), Greg deHart (Author), Brian R. Vuillemenot (Author), Derek Kennedy (Author), Don Musson (Author), Charles A. O'Neill (Author), Martin L. Katz (Author), Joshua W. Henshaw (Author)
• 格式: 圖書
• 出版: Wiley, 2021-09-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra‐rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase‐1 (TPP1). In the absence of adequate TPP1, lysosomal storage material accumulation occurs in the central nervo...