Williams, Ruth E.; Adams, Heather R.; Blohm, Martin; Cohen-Pfeffer, Jessica L.; de los Reyes, Emily; Denecke, Jonas; Drago, Kristen; Fairhurst, Charlie; Frazier, Margie; Guelbert, Norberto; Kiss, Szilard; Kofler, Annamaria; Lawson, John A.; Lehwald, Lenora; Leung, Mary-Anne; Mikhaylova, Svetlana; Mink, Jonathan W.; Nickel, Miriam; Shediac, Renee; Sims, Katherine; Specchio, Nicola; Topcu, Meral; von Loebbecke, Ina; West, Andrea; Zernikow, Boris; Schulz, Angela (Elsevier Science Inc, 2017)
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, ...