未登录 Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease 溶酶体基因Hexb在阿尔茨海默氏病的敲入小鼠模型中显示单倍体不足 Whyte, Lauren S.; Fourrier, Celia; Hassiotis, Sofia; Lau, Adeline A.; Trim, Paul J.; Hein, Leanne K.; Hattersley, Kathryn J.; Bensalem, Julien; Hopwood, John J.; Hemsley, Kim M.; Sargeant, Timothy J. 分享 收藏
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders Sanders, Karen A.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Tortorelli, Silvia; Hopwood, John J.; Lorey, Fred; Majumdar, Ramanath; Kroll, Charles A.; McDonald, Amber M.; Lacey, Jean M.; Turgeon, Coleman T.; Tucker, Justin N.; Tang, Hao; Currier, Robert; Isaya, Grazia; Rinaldo, Piero; Matern, Dietrich 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Newborn screening (NBS) for metachromatic leukodystrophy (MLD): results from a study of 100,000 deidentified NBS samples Ridsdale, Ross; Kroll, Charles; Sander, Karen; Olgesbee, Devin; Rinaldo, Piero; Hopwood, John; Lorey, Fred; Gelb, Michael; Raymond, Kimiyo; Gavrilov, Dimitar; Tortorelli, Silvia; Matern, Dietrich 分享 收藏
Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease Karageorgos, Litsa; Hein, Leanne; Rozaklis, Tina; Adams, Melissa; Duplock, Stephen; Snel, Marten; Hemsley, Kim; Kuchel, Tim; Smith, Nicholas; Hopwood, John J. 分享 收藏
分享 收藏
分享 收藏
Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial Ferla, Rita; Claudiani, Pamela; Savarese, Marco; Kozarsky, Karen; Parini, Rossella; Scarpa, Maurizio; Donati, Maria Alice; Sorge, Giovanni; Hopwood, John J.; Parenti, Giancarlo; Fecarotta, Simona; Nigro, Vincenzo; Sivri, Hatice Serap; Van der Ploeg, Ans; Andria, Generoso; Brunetti-Pierri, Nicola; Auricchio, Alberto 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Heparan Sulfate Proteoglycans Containing a Glypican 5 Core and 2-O-Sulfo-iduronic Acid Function as Sonic Hedgehog Co-receptors to Promote Proliferation Witt, Rochelle M.; Hecht, Marie-Lyn; Pazyra-Murphy, Maria F.; Cohen, Samuel M.; Noti, Christian; van Kuppevelt, Toin H.; Fuller, Maria; Chan, Jennifer A.; Hopwood, John J.; Seeberger, Peter H.; Segal, Rosalind A. 分享 收藏
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats Ponder, Katherine P.; O'Malley, Thomas M.; Wang, Ping; O'Donnell, Patricia A.; Traas, Anne M.; Knox, Van W.; Aguirre, Gustavo A.; Ellinwood, N. Matthew; Metcalf, Jason A.; Wang, Bin; Parkinson-Lawrence, Emma J.; Sleeper, Meg M.; Brooks, Doug A.; Hopwood, John J.; Haskins, Mark E. 分享 收藏
分享 收藏
分享 收藏