Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using Adeno associated Viral Gene Therapy

por Chandler, Randy J, Venditti, Charles P
Publicado 2009

Gene therapy for metabolic diseases

por Chandler, Randy J., Venditti, Charles P.
Publicado 2016

Genome editing for inborn errors of metabolism: advancing towards the clinic

por Schneller, Jessica L., Lee, Ciaran M., Bao, Gang, Venditti, Charles P.
Publicado 2017

Renal Growth in Isolated Methylmalonic Acidemia (MMA)

por Kruszka, Paul S., Manoli, Irini, Sloan, Jennifer L., Kopp, Jeffrey B., Venditti, Charles P.
Publicado 2013

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)

por Manoli, Irini, Myles, Jennifer, Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.
Publicado 2015

Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia

por May, Francis J., Head, PamelaSara E., Venturoni, Leah E., Chandler, Randy J., Venditti, Charles P.
Publicado 2021

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vec...

por Lomash, Richa Madan, Shchelochkov, Oleg, Chandler, Randy J., Venditti, Charles P., Pariser, Anne R., Ottinger, Elizabeth A.
Publicado 2023

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes

por Chandler, Randy J, Tsai, Matthew S, Dorko, Kenneth, Sloan, Jennifer, Korson, Mark, Freeman, Richard, Strom, Stephen, Venditti, Charles P
Publicado 2007

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging

por Pavuluri, KowsalyaDevi, Manoli, Irini, Pass, Alexandra, Li, Yuguo, Vernon, Hilary J., Venditti, Charles P., McMahon, Michael T.
Publicado 2019

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

por Gabriel, Marie Cosette, Rice, Stephanie M., Sloan, Jennifer L., Mossayebi, Matthew H., Venditti, Charles P., Al‐Kouatly, Huda B.
Publicado 2021

Liver-Directed Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Lethal Murine Model of Citrullinemia Type 1

por Chandler, Randy J., Tarasenko, Tatiana N., Cusmano-Ozog, Kristina, Sun, Qin, Sutton, V. Reid, Venditti, Charles P., McGuire, Peter J.
Publicado 2013

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).()

por Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Publicado 2015

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

por Chandler, Randy J, Sloan, Jennifer, Fu, Hong, Tsai, Matthew, Stabler, Sally, Allen, Robert, Kaestner, Klaus H, Kazazian, Haig H, Venditti, Charles P
Publicado 2007

Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9

por 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.
Publicado 2022

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

por Higashimoto, Tomoyasu, Kim, Alexander Y., Ogawa, Jessica T., Sloan, Jennifer L., Almuqbil, Mohammed A., Carlson, Julia M., Manoli, Irini, Venditti, Charles P., Gunay‐Aygun, Meral, Wang, Tao
Publicado 2019

Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia

por Chandler, Randy J., Di Pasquale, Giovanni, Choi, Eun-Young, Chang, David, Smith, Stephanie N., Sloan, Jennifer L., Hoffmann, Victoria, Li, Lina, Chiorini, John A., Venditti, Charles P.
Publicado 2023

In vivo genome editing at the albumin locus to treat methylmalonic acidemia

por Schneller, Jessica L., Lee, Ciaran M., Venturoni, Leah E., Chandler, Randy J., Li, Ang, Myung, Sangho, Cradick, Thomas J., Hurley, Ayrea E., Lagor, William R., Bao, Gang, Venditti, Charles P.
Publicado 2021

Chronic Kidney Disease in Propionic Acidemia

por Shchelochkov, Oleg A., Manoli, Irini, Sloan, Jennifer L., Ferry, Susan, Pass, Alexandra, Van Ryzin, Carol, Myles, Jennifer, Schoenfeld, Megan, McGuire, Peter, Rosing, Douglas R., Levin, Mark D., Kopp, Jeffrey B., Venditti, Charles P.
Publicado 2019

Promoterless, Nuclease‐Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia

por Chandler, Randy J., Venturoni, Leah E., Liao, Jing, Hubbard, Brandon T., Schneller, Jessica L., Hoffmann, Victoria, Gordo, Susana, Zang, Shengwen, Ko, Chih‐Wei, Chau, Nelson, Chiang, Kyle, Kay, Mark A., Barzel, Adi, Venditti, Charles P.
Publicado 2021

Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease

por Kang, Hye-Ri, Gjorgjieva, Monika, Smith, Stephanie N., Brooks, Elizabeth D., Chen, Zelin, Burgess, Shawn M., Chandler, Randy J., Waskowicz, Lauren R., Grady, Kylie M., Li, Songtao, Mithieux, Gilles, Venditti, Charles P., Rajas, Fabienne, Koeberl, Dwight D.
Publicado 2019