Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models von Chandler, Randy J, Sands, Mark S, Venditti, Charles P

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Methylmalonic and propionic acidemias: clinical management update von Fraser, Jamie L, Venditti, Charles P

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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management von Carrillo-Carrasco, Nuria, Chandler, Randy J., Venditti, Charles P.

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Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia von An, Ding, Schneller, Jessica L., Frassetto, Andrea, Liang, Shi, Zhu, Xuling, Park, Ji-Sun, Theisen, Matt, Hong, Sue-Jean, Zhou, Jenny, Rajendran, Raj, Levy, Becca, Howell, Rebecca, Besin, Gilles, Presnyak, Vladimir, Sabnis, Staci, Murphy-Benenato, Kerry E., Kumarasinghe, E. Sathyajith, Salerno, Timothy, Mihai, Cosmin, Lukacs, Christine M., Chandler, Randy J., Guey, Lin T., Venditti, Charles P., Martini, Paolo G.V.

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes von Carrillo-Carrasco, Nuria, Venditti, Charles P.

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Safety questions for AAV gene therapy von Venditti, Charles P.

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin von Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C, Noon, Sarah, Dulik, Matthew C, Rajagopalan, Ramakrishnan, Venditti, Charles P, Gripp, Karen, Samanich, Joy, Zackai, Elaine H, Deardorff, Matthew A, Clark, Dinah, Allen, Julian L, Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D

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Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? von Sloan, Jennifer L., PhD, MS, Manoli, Irini, MD, PhD, Venditti, Charles P., MD, PhD

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 von Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.

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Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism von Lerin, Carles, Goldfine, Allison B, Boes, Tanner, Liu, Manway, Kasif, Simon, Dreyfuss, Jonathan M, De Sousa-Coelho, Ana Luisa, Daher, Grace, Manoli, Irini, Sysol, Justin R, Isganaitis, Elvira, Jessen, Niels, Goodyear, Laurie J, Beebe, Kirk, Gall, Walt, Venditti, Charles P, Patti, Mary-Elizabeth

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The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup von Brooks, Philip J., Ottinger, Elizabeth A., Portero, Deanna, Lomash, Richa Madan, Alimardanov, Asaf, Terse, Pramod, Xu, Xin, Chandler, Randy J., Geist Hauserman, Janelle, Esposito, Eric, Bonnemann, Carsten G., Venditti, Charles P., Austin, Christopher P., Pariser, Anne, Lo, Donald C.

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Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency von Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Sloan, Jennifer L., MS, PhD, Manoli, Irini, MD, PhD, Carrillo-Carrasco, Nuria, MD, Zein, Wadih M., MD, Venditti, Charles P., MD, PhD

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia von Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.

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Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors von Ferla, Rita, Alliegro, Marialuisa, Dell’Anno, Margherita, Nusco, Edoardo, Cullen, John M., Smith, Stephanie N., Wolfsberg, Tyra G., O’Donnell, Patricia, Wang, Ping, Nguyen, Anh-Dao, Chandler, Randy J., Chen, Zelin, Burgess, Shawn M., Vite, Charles H., Haskins, Mark E., Venditti, Charles P., Auricchio, Alberto

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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations von HAUSER, Natalie S, MANOLI, Irini, GRAF, Jennifer C, SLOAN, Jennifer, VENDITTI, Charles P

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Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using Adeno associated Viral Gene Therapy von Chandler, Randy J, Venditti, Charles P

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Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging von Pavuluri, KowsalyaDevi, Manoli, Irini, Pass, Alexandra, Li, Yuguo, Vernon, Hilary J, Venditti, Charles P, McMahon, Michael T

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Mission possible: Gene therapy for inherited metabolic diseases von Baruteau, Julien, Keshavan, Nandaki, Venditti, Charles P.

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Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation von Hjalmarsson, Clara, Backelin, Charlotte, Thoren, Anders, Bergh, Niklas, Sloan, Jennifer L., Manoli, Irini, Venditti, Charles P., Dellgren, Göran

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Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9 von Chandler, Randy J., Di Pasquale, Giovanni, Sloan, Jennifer L., McCoy, Samantha, Hubbard, Brandon T., Kilts, Tina M., Manoli, Irini, Chiorini, John A., Venditti, Charles P.

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