Search Results - "Batshaw, Mark L"

Adeno-Associated Virus Antibody Profiles in Newborns, Children, and Adolescents by Calcedo, Roberto, Morizono, Hiroki, Wang, Lili, McCarter, Robert, He, Jianping, Jones, David, Batshaw, Mark L, Wilson, James M

“…Classifications Services CVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium by Waisbren, Susan E., Gropman, Andrea L., Batshaw, Mark L.

“…The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme deficiencies/transporter defects…”
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AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice by Wang, Lili, Bell, Peter, Morizono, Hiroki, He, Zhenning, Pumbo, Elena, Yu, Hongwei, White, John, Batshaw, Mark L., Wilson, James M.

“…Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle. Hemizygous males and heterozygous females may experience…”
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Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches by Gropman, Andrea L, Batshaw, Mark L

“…The diagnostic evaluation of children with intellectual disability (ID) and other neurodevelopmental disabilities (NDD) has become increasingly complex in…”
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The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem by Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David

“…Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First…”
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Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome by Wang, Lili, Morizono, Hiroki, Lin, Jianping, Bell, Peter, Jones, David, McMenamin, Deirdre, Yu, Hongwei, Batshaw, Mark L., Wilson, James M.

“…Ornithine transcarbamylase deficiency (OTCD), the most common and severe urea cycle disorder, is an excellent model for developing liver-directed gene therapy…”
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A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice by 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

“…In vivo delivery of CRISPR-Cas9 corrects mutation in newborn mouse liver. Many genetic liver diseases in newborns cause repeated, often lethal, metabolic…”
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Alternative pathway therapy for urea cycle disorders: Twenty years later by Batshaw, Mark L., MacArthur, Robert B., Tuchman, Mendel

“…Alternative pathway therapy is currently an accepted treatment approach for inborn errors of the urea cycle. This involves the long-term use of oral sodium…”
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Genomics, Intellectual Disability, and Autism by Mefford, Heather C, Batshaw, Mark L, Hoffman, Eric P

“…The authors discuss the substantive impact of recent advances in genomic technologies on the diagnosis and understanding of intellectual disability and autism…”
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium by 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.

“…The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases…”
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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency by Gyato, Kunsang, Wray, J., Huang, Z. J., Yudkoff, M., Batshaw, Mark L.

“…We compared neurocognitive indices with clinical status, mutation analysis, and urea synthetic capacity in 19 women heterozygous for ornithine transcarbamylase…”
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Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern by 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.

“…Objectives: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). Study design:…”
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A longitudinal study of urea cycle disorders by Batshaw, Mark L., Tuchman, Mendel, Summar, Marshall, Seminara, Jennifer

“…The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8…”
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Obituary for Claude Bachmann, MD (1941–2022) by Batshaw, Mark L., Braissant, Olivier, Dionisi‐Vici, Carlo, Steinmann, Beat, Superti‐Furga, Andrea

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The Pleiotropic Effects of Natural AAV Infections on Liver-directed Gene Transfer in Macaques by Wang, Lili, Calcedo, Roberto, Wang, Huan, Bell, Peter, Grant, Rebecca, Vandenberghe, Luk H, Sanmiguel, Julio, Morizono, Hiroki, Batshaw, Mark L, Wilson, James M

“…Adeno-associated viral (AAV) vectors hold great potential for liver-directed gene therapy. Stable and high levels of transgene expression have been achieved in…”
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Systematic Evaluation of AAV Vectors for Liver directed Gene Transfer in Murine Models by Wang, Lili, Wang, Huan, Bell, Peter, McCarter, Robert J, He, Jianping, Calcedo, Roberto, Vandenberghe, Luk H, Morizono, Hiroki, Batshaw, Mark L, Wilson, James M

“…Vectors based on adeno-associated viruses (AAVs) are being evaluated for use in liver-directed gene therapy. Candidates have been preselected on the basis of…”
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A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency by 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

“…Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle disorder associated with high mortality. Although a promising treatment for late-onset…”
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Research Into Rare Diseases of Childhood by Batshaw, Mark L, Groft, Stephen C, Krischer, Jeffrey P

“…The acceleration of clinical trials studying rare diseases over the past three decades has occurred largely because of the Orphan Drug Act, which was enacted…”
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Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer by Raper, Steven E, Chirmule, Narendra, Lee, Frank S, Wivel, Nelson A, Bagg, Adam, Gao, Guang-ping, Wilson, James M, Batshaw, Mark L

“…We report the death of an 18-year-old male with partial ornithine transcarbmaylase (OTC) deficiency who participated in a pilot (safety) study of gene therapy…”
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Cross-sectional multicenter study of patients with urea cycle disorders in the United States by 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.

“…Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. We report…”
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