Substrate reduction therapy von Platt, Frances M, Jeyakumar, Mylvaganam

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Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1 von Smith, David, Wallom, Kerri-Lee, Williams, Ian M, Jeyakumar, Mylvaganam, Platt, Frances M

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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 von Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M

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Directed differentiation of embryonic stem cells using a bead-based combinatorial screening method von Tarunina, Marina, Hernandez, Diana, Johnson, Christopher J, Rybtsov, Stanislav, Ramathas, Vidya, Jeyakumar, Mylvaganam, Watson, Thomas, Hook, Lilian, Medvinsky, Alexander, Mason, Chris, Choo, Yen

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Inhibition of Calcium Uptake via the Sarco/Endoplasmic Reticulum Ca2+-ATPase in a Mouse Model of Sandhoff Disease and Prevention by Treatment with N-Butyldeoxynojirimycin von Pelled, Dori, Lloyd-Evans, Emyr, Riebeling, Christian, Jeyakumar, Mylvaganam, Platt, Frances M., Futerman, Anthony H.

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Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis von Elliot-Smith, Elena, Speak, Anneliese O., Lloyd-Evans, Emyr, Smith, David A., Spoel, Aarnoud C. van der, Jeyakumar, Mylvaganam, Butters, Terry D., Dwek, Raymond A., d’Azzo, Alessandra, Platt, Frances M.

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Reversible Infertility in Male Mice after Oral Administration of Alkylated Imino Sugars: A Nonhormonal Approach to Male Contraception von van der Spoel, Aarnoud C., Jeyakumar, Mylvaganam, Butters, Terry D., Charlton, Harry M., Moore, Harry D., Dwek, Raymond A., Platt, Frances M.

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Critical role of iron in the pathogenesis of the murine gangliosidoses von Jeyakumar, Mylvaganam, Williams, Ian, Smith, David A, Cox, Timothy M, Platt, Frances M

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Delayed Symptom Onset and Increased Life Expectancy in Sandhoff Disease Mice Treated with N-Butyldeoxynojirimycin von Jeyakumar, Mylvaganam, Butters, Terry D., Cortina-Borja, Mario, Hunnam, Victoria, Proia, Richard L., Perry, V. Hugh, Dwek, Raymond A., Platt, Frances M.

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Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease von Andersson, Ulrika, Smith, David, Jeyakumar, Mylvaganam, Butters, Terry D, Borja, Mario Cortina, Dwek, Raymond A, Platt, Frances M

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Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation von Jeyakumar, Mylvaganam, Norflus, Francine, Tifft, Cynthia J., Cortina-Borja, Mario, Butters, Terry D., Proia, Richard L., Perry, V. Hugh, Dwek, Raymond A., Platt, Frances M.

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Substrate reduction therapy in mouse models of the glycosphingolipidoses von Platt, Frances M., Jeyakumar, Mylvaganam, Andersson, Ulrika, Heare, Tanya, Dwek, Raymond A., Butters, Terry D.

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Storage solutions: treating lysosomal disorders of the brain von Jeyakumar, Mylvaganam, Dwek, Raymond A., Butters, Terry D., Platt, Frances M.

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Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease von Lee, Jean-Pyo, Jeyakumar, Mylvaganam, Gonzalez, Rodolfo, Takahashi, Hiroto, Lee, Pei-Jen, Baek, Rena C, Clark, Dan, Rose, Heather, Fu, Gerald, Clarke, Jonathan, McKercher, Scott, Meerloo, Jennifer, Muller, Franz-Josef, Park, Kook In, Butters, Terry D, Dwek, Raymond A, Schwartz, Philip, Tong, Gang, Wenger, David, Lipton, Stuart A, Seyfried, Thomas N, Platt, Frances M, Snyder, Evan Y

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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker von te Vruchte, Danielle, Speak, Anneliese O, Wallom, Kerri L, Al Eisa, Nada, Smith, David A, Hendriksz, Christian J, Simmons, Louise, Lachmann, Robin H, Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M, Wassif, Christopher A, Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M, Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S, Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J, Wraith, James E, Porter, Forbes D, Cortina-Borja, Mario, Platt, Frances M

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An Inducible Mouse Model of Late Onset Tay–Sachs Disease von Jeyakumar, Mylvaganam, Smith, David, Eliott-Smith, Elena, Cortina-Borja, Mario, Reinkensmeier, Gabriele, Butters, Terry D., Lemm, Thorsten, Sandhoff, Konrad, Perry, V.Hugh, Dwek, Raymond A., Platt, Frances M.

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Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease von Bradbury, Allison M., Gray-Edwards, Heather L., Shirley, Jamie L., McCurdy, Victoria J., Colaco, Alexandria N., Randle, Ashley N., Christopherson, Pete W., Bird, Allison C., Johnson, Aime K., Wilson, Diane U., Hudson, Judith A., De Pompa, Nicholas L., Sorjonen, Donald C., Brunson, Brandon L., Jeyakumar, Mylvaganam, Platt, Frances M., Baker, Henry J., Cox, Nancy R., Sena-Esteves, Miguel, Martin, Douglas R.

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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 von Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M

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Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease von Jeyakumar, Mylvaganam, Lee, Jean‐Pyo, Sibson, Nicola R., Lowe, John P., Stuckey, Daniel J., Tester, Katie, Fu, Gerald, Newlin, Robin, Smith, David A., Snyder, Evan Y., Platt, Frances M.

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NSAIDs increase survival in the Sandhoff disease mouse: Synergy with N-butyldeoxynojirimycin von Jeyakumar, Mylvaganam, Smith, David A., Williams, Ian M., Borja, Mario Cortina, Neville, David C. A., Butters, Terry D., Dwek, Raymond A., Platt, Frances M.

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