Showing 1 - 20 results of 28 for search 'Priya S. Kishnani', query time: 0.06s Refine Results
  1. 1
    Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice

    Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice by Jeong-A Lim, Priya S. Kishnani, Baodong Sun

    Published 2022-12-01
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  2. 2
    Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III

    Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III by Erin Huggins, David G. Jackson, Sarah P. Young, Priya S. Kishnani

    Published 2024-09-01
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  3. 3
    Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

    Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy by David G. Jackson, Rebecca L. Koch, Surekha Pendyal, Robert Benjamin, Priya S. Kishnani

    Published 2023-09-01
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  4. 4
    Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease

    Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease by Jeong-A Lim, Haiqing Yi, Fengqin Gao, Nina Raben, Priya S. Kishnani, Baodong Sun

    Published 2019-03-01
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  5. 5
    A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

    A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum by Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani

    Published 2022-09-01
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  6. 6
    A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation

    A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted im... by Shiri Curelaru, Ankit K. Desai, Daniel Fink, Yoav Zehavi, Priya S. Kishnani, Ronen Spiegel

    Published 2022-09-01
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  7. 7
    Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

    Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome by Daniel C. Julien, Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, Priya S. Kishnani

    Published 2020-05-01
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  8. 8
    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening by Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Deeksha S. Bali, Priya S. Kishnani

    Published 2022-09-01
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  9. 9
    P1588: LONG-TERM REAL-WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT-NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY

    P1588: LONG-TERM REAL-WORLD EFFECTIVENESS OF ELIGLUSTAT IN TREATMENT-NAÏVE AND SWITCH PATIENTS ENROLLED IN THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY by Pramod Mistry, Manisha Balwani, Joel Charrow, Jeremy Lorber, Claus Niederau, Jenny Carwile, Sefika Uslu, Priya S. Kishnani

    Published 2023-08-01
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  10. 10
    Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

    Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy by Katherine H. Kim, Ankit K. Desai, Erika R. Vucko, Tracy Boggs, Priya S. Kishnani, Barbara K. Burton

    Published 2023-09-01
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  11. 11
    Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

    Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls by Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch

    Published 2023-12-01
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  12. 12
    Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

    Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening by David G. Jackson, Laura E. Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S. Kishnani

    Published 2023-09-01
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  13. 13
    Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

    Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey by Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan

    Published 2018-03-01
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  14. 14
    Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

    Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy by William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

    Published 2023-09-01
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  15. 15
    Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

    Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease by John S. Wang, Rebecca L. Koch, Daniel Kenney‐Jung, Erin Huggins, Sirajbir S. Sodhi, Andrew P. Landstrom, Dilraj S. Grewal, Priya S. Kishnani

    Published 2024-09-01
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  16. 16
    Pregnancy Outcomes in Late Onset Pompe Disease

    Pregnancy Outcomes in Late Onset Pompe Disease by Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani

    Published 2020-09-01
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  17. 17
    Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease

    Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease by Ankit K. Desai, P. Brian Smith, P. Brian Smith, John S. Yi, Amy S. Rosenberg, Trevor D. Burt, Trevor D. Burt, Priya S. Kishnani

    Published 2024-01-01
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  18. 18
    Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data

    Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS®) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data by Priya S. Kishnani, Simon Shohet, Syed Raza, Noemi Hummel, Jeffrey P. Castelli, Sheela Sitaraman Das, Heng Jiang, Agnieszka Kopiec, Ian Keyzor, Andreas Hahn

    Published 2024-01-01
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  19. 19
    Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation

    Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation by Angie H. Fares, Ankit K. Desai, Laura E. Case, Cassie Sharon, Amy Klinepeter, Amelia Kirby, Matthew T. Lisi, Rebecca L. Koch, Priya S. Kishnani

    Published 2024-12-01
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  20. 20
    An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation

    An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation by Ankit K. Desai, Garima Shrivastava, Christina L. Grant, Raymond Y. Wang, Raymond Y. Wang, Trevor D. Burt, Trevor D. Burt, Priya S. Kishnani

    Published 2024-03-01
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