Search Results - Kishnani, Priya S.

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  1. 1
    Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

    Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease by Austin, Stephanie, Kishnani, Priya

    Published 2013
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  2. 2
    Liver depot gene therapy for Pompe disease

    Liver depot gene therapy for Pompe disease by Kishnani, Priya S., Koeberl, Dwight D.

    Published 2019
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  3. 3
    Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations

    Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations by Prasun, Pankaj, Bailey, Lauren A., Kishnani, Priya S.

    Published 2014
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  4. 4
    Gene therapy for glycogen storage diseases

    Gene therapy for glycogen storage diseases by Kishnani, Priya S, Sun, Baodong, Koeberl, Dwight D

    Published 2019
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  5. 5
    Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.

    Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al. by Brooks, Elizabeth D., Kishnani, Priya S., Koeberl, Dwight D.

    Published 2018
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  6. 6
    Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

    Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease by Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S.

    Published 2015
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  7. 7
    An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond

    An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond by Korlimarla, Aditi, Lim, Jeong-A, Kishnani, Priya S., Sun, Baodong

    Published 2019
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  8. 8
    Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review

    Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review by Desai, Ankit K., Li, Cindy, Rosenberg, Amy S., Kishnani, Priya S.

    Published 2019
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  9. 9
    Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver

    Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver by Sun, Tao, Yi, Haiqing, Yang, Chunyu, Kishnani, Priya S., Sun, Baodong

    Published 2016
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  10. 10
    Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

    Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV by Yi, Haiqing, Gao, Fengqin, Austin, Stephanie, Kishnani, Priya S, Sun, Baodong

    Published 2016
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  11. 11
    A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV

    A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV by Yi, Haiqing, Zhang, Quan, Yang, Chunyu, Kishnani, Priya S., Sun, Baodong

    Published 2016
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  12. 12
    Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

    Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy by Desai, Ankit K., Kazi, Zoheb B., Bali, Deeksha S., Kishnani, Priya S.

    Published 2019
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  13. 13
    Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

    Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder by Hart, Sarah J., Worley, Gordon, Kishnani, Priya S., Van Mater, Heather

    Published 2021
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  14. 14
    Interpretation of Incidental Genetic Findings Localizing to Genes Associated with Cardiac Channelopathies and Cardiomyopathies

    Interpretation of Incidental Genetic Findings Localizing to Genes Associated with Cardiac Channelopathies and Cardiomyopathies by Ezekian, Jordan E., Rehder, Catherine, Kishnani, Priya S., Landstrom, Andrew P.

    Published 2021
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  15. 15
    Pompe disease- experience from South India

    Pompe disease- experience from South India by Lingappa, Lokesh, Devi, Radha Rama, Dherai, Alpa, Rehder, Catherene, Kishnani, Priya

    Published 2013
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  16. 16
    Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

    Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth by Mori, Mari, DeArmey, Stephanie L., Weber, Thomas J., Kishnani, Priya S.

    Published 2016
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  17. 17
    Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

    Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood by Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren

    Published 2017
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  18. 18
    Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX

    Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX by Fernandes, Samuela A., Cooper, Gabrielle E., Gibson, Rebecca Anne, Kishnani, Priya S.

    Published 2020
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  19. 19
    Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

    Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease by Levine, Jami C., Kishnani, Priya S., Chen, Y. T., Herlong, J. Rene, Li, Jennifer S.

    Published 2008
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  20. 20
    Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

    Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers by Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya

    Published 2015
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