Adeno-Associated Virus Antibody Profiles in Newborns, Children, and Adolescents
Calcedo, Roberto, Morizono, Hiroki, Wang, Lili, McCarter, Robert, He, Jianping, Jones, David, Batshaw, Mark L, Wilson, James M
Published in Clinical and Vaccine Immunology (01.09.2011)
Published in Clinical and Vaccine Immunology (01.09.2011)
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Journal Article
AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice
Wang, Lili, Bell, Peter, Morizono, Hiroki, He, Zhenning, Pumbo, Elena, Yu, Hongwei, White, John, Batshaw, Mark L., Wilson, James M.
Published in Molecular genetics and metabolism (01.04.2017)
Published in Molecular genetics and metabolism (01.04.2017)
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Journal Article
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David
Published in JIMD reports (01.05.2023)
Published in JIMD reports (01.05.2023)
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Journal Article
Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome
Wang, Lili, Morizono, Hiroki, Lin, Jianping, Bell, Peter, Jones, David, McMenamin, Deirdre, Yu, Hongwei, Batshaw, Mark L., Wilson, James M.
Published in Molecular genetics and metabolism (01.02.2012)
Published in Molecular genetics and metabolism (01.02.2012)
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Journal Article
A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice
Yang, Yang, Wang, Lili, Bell, Peter, McMenamin, Deirdre, He, Zhenning, White, John, Yu, Hongwei, Xu, Chenyu, Morizono, Hiroki, Musunuru, Kiran, Batshaw, Mark L, Wilson, James M
Published in Nature biotechnology (01.03.2016)
Published in Nature biotechnology (01.03.2016)
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Journal Article
Alternative pathway therapy for urea cycle disorders: Twenty years later
Batshaw, Mark L., MacArthur, Robert B., Tuchman, Mendel
Published in The Journal of pediatrics (01.01.2001)
Published in The Journal of pediatrics (01.01.2001)
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Journal Article
Conference Proceeding
Genomics, Intellectual Disability, and Autism
Mefford, Heather C, Batshaw, Mark L, Hoffman, Eric P
Published in The New England journal of medicine (23.02.2012)
Published in The New England journal of medicine (23.02.2012)
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Journal Article
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Seminara, Jennifer, Tuchman, Mendel, Krivitzky, Lauren, Krischer, Jeffrey, Lee, Hye-Seung, LeMons, Cynthia, Baumgartner, Matthias, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Kerr, Douglas S., Lanpher, Brendan, Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Merritt, J. Lawrence, Oster-Granite, Mary Lou, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall, Waisbren, Susan, Yudkoff, Marc, Batshaw, Mark L.
Published in Molecular genetics and metabolism (2010)
Published in Molecular genetics and metabolism (2010)
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Journal Article
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
Gyato, Kunsang, Wray, J., Huang, Z. J., Yudkoff, M., Batshaw, Mark L.
Published in Annals of neurology (01.01.2004)
Published in Annals of neurology (01.01.2004)
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Journal Article
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
Moss, Edward M., Batshaw, Mark L., Solot, Cynthia B., Gerdes, Marsha, McDonald-McGinn, Donna M., Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Wang, Paul P.
Published in The Journal of pediatrics (01.02.1999)
Published in The Journal of pediatrics (01.02.1999)
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Journal Article
A longitudinal study of urea cycle disorders
Batshaw, Mark L., Tuchman, Mendel, Summar, Marshall, Seminara, Jennifer
Published in Molecular genetics and metabolism (01.09.2014)
Published in Molecular genetics and metabolism (01.09.2014)
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Journal Article
Obituary for Claude Bachmann, MD (1941–2022)
Batshaw, Mark L., Braissant, Olivier, Dionisi‐Vici, Carlo, Steinmann, Beat, Superti‐Furga, Andrea
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
The Pleiotropic Effects of Natural AAV Infections on Liver-directed Gene Transfer in Macaques
Wang, Lili, Calcedo, Roberto, Wang, Huan, Bell, Peter, Grant, Rebecca, Vandenberghe, Luk H, Sanmiguel, Julio, Morizono, Hiroki, Batshaw, Mark L, Wilson, James M
Published in Molecular therapy (01.01.2010)
Published in Molecular therapy (01.01.2010)
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Journal Article
Systematic Evaluation of AAV Vectors for Liver directed Gene Transfer in Murine Models
Wang, Lili, Wang, Huan, Bell, Peter, McCarter, Robert J, He, Jianping, Calcedo, Roberto, Vandenberghe, Luk H, Morizono, Hiroki, Batshaw, Mark L, Wilson, James M
Published in Molecular therapy (01.01.2010)
Published in Molecular therapy (01.01.2010)
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Journal Article
Research Into Rare Diseases of Childhood
Batshaw, Mark L, Groft, Stephen C, Krischer, Jeffrey P
Published in JAMA : the journal of the American Medical Association (07.05.2014)
Published in JAMA : the journal of the American Medical Association (07.05.2014)
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Journal Article
A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency
Wang, Lili, Yang, Yang, Breton, Camilo, Bell, Peter, Li, Mingyao, Zhang, Jia, Che, Yan, Saveliev, Alexei, He, Zhenning, White, John, Latshaw, Caitlin, Xu, Chenyu, McMenamin, Deirdre, Yu, Hongwei, Morizono, Hiroki, Batshaw, Mark L, Wilson, James M
Published in Science advances (01.02.2020)
Published in Science advances (01.02.2020)
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Journal Article
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer
Raper, Steven E, Chirmule, Narendra, Lee, Frank S, Wivel, Nelson A, Bagg, Adam, Gao, Guang-ping, Wilson, James M, Batshaw, Mark L
Published in Molecular genetics and metabolism (01.09.2003)
Published in Molecular genetics and metabolism (01.09.2003)
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Journal Article
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article