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Tay-Sachs Disease
1993 Tay-Sachs disease, which is inherited in an autosomal recessive manner, is a fatal disease. It is characterized by the absence or deficiency of the enzyme hexosaminidase A. This biochemical defect results in an abnormal deposition of gangliosidase in the central nervous system and the liver.Juan Orellana, Alan H. Friedmanopenaire +2 more sourcesTay—Sachs disease
1996 This condition is usually only seen in Ashkenazi Jewish families, where the incidence is thought to be as high as around one in every 4000 live births. A further population group in which this serious condition occurs is French Canadians. Older children and adults are virtually never seen with Tay—Sachs disease, as death inevitably occurs in early ...openaire +1 more sourceTay-sachs disease
Indian Journal of Pediatrics, 1979 G K, Malik, P N, Saksena, G C, Rastogi, R, Shukla, I, Wakhlu +4 moreopenaire +2 more sourcesAdeno-Associated Virus Gene Therapy in a Sheep Model of Tay–Sachs Disease
Human Gene Therapy, 2017 H. Gray-Edwards, Ashley N. Randle, Stacy A. Maitland, Hector R Benatti, Spencer M Hubbard, Peter F Canning, Matthew B Vogel, Brandon L. Brunson, Misako Hwang, Lauren E. Ellis, A. Bradbury, A. S. Gentry, A. Taylor, A. Wooldridge, D. R. Wilhite, R. Winter, B. Whitlock, Jacob A. Johnson, M. Holland, N. Salibi, R. Beyers, J. Sartin, T. Denney, N. Cox, M. Sena-Esteves, Douglas R. Martin +25 moresemanticscholar +1 more sourceTay–Sachs Disease
2009 Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Hugo Ten Cate, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Hugo Ten Cate, Hugo Ten Cate, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, André B. P. Van Kuilenburg, Albert H. Van Gennip*, Alexander K. C. Leung, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Seda Sancak, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mario Vaccaro, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, Deborah Bartholdi, Albert Schinzel, John Wolstenholme, Deborah Bartholdi, Albert Schinzel, Alexander K. C. Leung, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo +145 moreopenaire +2 more sourcesAmyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease
Journal of Neurology, 2019 H. Jahnová, H. Poupětová, Jitka Jirečková, H. Vlášková, E. Košťálová, R. Mazanec, A. Zumrová, P. Mečíř, Z. Mušová, M. Magner +9 moresemanticscholar +1 more source
