Výsledky vyhledávání - "Deeksha Bali"

Akademický článek

Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

Autor: William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

Publikováno v: JIMD Reports, Vol 64, Iss 5, Pp 393-400 (2023)

Abstract Late‐onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other pot

Externí odkaz: https://doaj.org/article/d8832d4d282b4cac8148d3645a6ca744

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Akademický článek

O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I

Autor: Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)

Externí odkaz: https://doaj.org/article/b527ee7bd72c43f48b7b5dc695356788

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Akademický článek

P252: Development of a scoring system to define lysosomal diseases

Autor: Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101148- (2024)

Externí odkaz: https://doaj.org/article/1cd58182024b48cfacc41ea8e4d2a0cd

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Akademický článek

P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease

Autor: Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101599- (2024)

Externí odkaz: https://doaj.org/article/553edb151f4b4b878ba5e28cde90a06b

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Akademický článek

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV

Autor: Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)

Externí odkaz: https://doaj.org/article/193ab1baaba843d9bdec0a40ad755c5d

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Akademický článek

P173: Establishing preclinical efficacy for the first AAV gene therapy for GSD IX γ2 across stages of progressive liver disease

Autor: Rebecca Gibson, Jeong-A Lim, Su Jin Choi, Neha Jumani, Deeksha Bali, Sarah Young, William Jeck, Baodong Sun, Aravind Asokan, Priya Kishnani

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100202- (2023)

Externí odkaz: https://doaj.org/article/d63af71a953446e8916fffd5b0b011d6

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Akademický článek

Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens

Autor: Anirudh J. Ullal, Hong Pham, Rajendra Singh, Peter Ross, Carrie A. Graham, Scott M. Norton, Miriam H. Nuffer, Debbie S. Burns, Allen E. Eckhardt, Maria Escolar, Deeksha Bali, Vamsee K. Pamula

Publikováno v: Practical Laboratory Medicine, Vol 18, Iss , Pp - (2020)

Background: Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and

Externí odkaz: https://doaj.org/article/1864a58aeda24f8caccb00a7e9cd11c2

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Akademický článek

Corrigendum to âAssessment of toxicity and biodistribution of recombinant AAV8 vectorâmediated immunomodulatory gene therapy in mice with Pompe diseaseâ

Autor: Gensheng Wang, Sarah P Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, Dwight D Koeberl

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)

Externí odkaz: https://doaj.org/article/ba0e3cf2d64d4e55bda3d7a4cf243202

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Akademický článek

Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease

Autor: Gensheng Wang, Sarah P Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, Dwight D Koeberl

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)

A preclinical safety study was conducted to evaluate the short- and long-term toxicity of a recombinant adeno-associated virus serotype 8 (AAV2/8) vector that has been developed as an immune-modulatory adjunctive therapy to recombinant human acid α-

Externí odkaz: https://doaj.org/article/9b114e18ed94455e94387b39e072f9a7

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