检索结果 - Deeksha Bali

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  1. 1
    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 由 Ankit K. Desai, Zoheb B. Kazi, Deeksha Bali, Priya S. Kishnani

    出版 2019
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  2. 2
    Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience

    Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience... 由 Deeksha Bali, Jennifer Goldstein, Suhrad G. Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, Priya S. Kishnani

    出版 2012
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  3. 3
    Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

    Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker 由 Sarah P. Young, Haoyue Zhang, Deyanira Corzo, Beth L. Thurberg, Deeksha Bali, Priya S. Kishnani, David S. Millington

    出版 2009
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  4. 4
    Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

    Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? 由 Erin Demo, Donald P. Frush, Marcia R. Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y.T. Chen, Priya S. Kishnani

    出版 2006
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    Revisão
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  5. 5
    Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

    Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle 由 Dwight D. Koeberl, Xiaoyan Luo, Baodong Sun, Alison McVie‐Wylie, Jian Dai, Songtao Li, Suhrad G. Banugaria, Y.-T. Chen, Deeksha Bali

    出版 2011
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  6. 6
    Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

    Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene 由 Deeksha Bali, Jennifer Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard E. Lutz, Avihu Boneh, Priya S. Kishnani

    出版 2013
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  7. 7
    Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform

    Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform 由 Ramakrishna Sista, Tong Wang, Ning Wu, Carrie Graham, Allen E. Eckhardt, Theodore Winger, Vijay Srinivasan, Deeksha Bali, David S. Millington, Vamsee K. Pamula

    出版 2013
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  8. 8
    Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

    Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring 由 Carine A. Halaby, Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani Clinton, Brian P. Smith, Surekha Pendyal, Jariya Upadia, Gary R. Schooler, Alisha Mavis, Priya S. Kishnani

    出版 2019
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  9. 9
    Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

    Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants 由 Priya S. Kishnani, Paula Goldenberg, Stephanie DeArmey, James H. Heller, Danny Benjamin, Sarah P. Young, Deeksha Bali, Sue Ann Smith, Jennifer S. Li, Hanna Mandel, Dwight D. Koeberl, Amy S. Rosenberg, Y-T Chen

    出版 2009
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  10. 10
    Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease

    Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease 由 Priya S. Kishnani, Tzu‐Po Chuang, Deeksha Bali, Dwight D. Koeberl, Stephanie Austin, David A. Weinstein, Elaine Murphy, Ying‐Ting Chen, Keri Boyette, Chu‐Hao Liu, Yuan-Tsong Chen, Ling‐Hui Li

    出版 2009
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  11. 11
    Animal Model for Maturity-onset Diabetes of the Young Generated by Disruption of the Mouse Glucokinase Gene

    Animal Model for Maturity-onset Diabetes of the Young Generated by Disruption of the Mouse Glucokinase Gene 由 Deeksha Bali, Anton Svetlanov, Han‐Woong Lee, D Fusco-DeMane, M Leiser, Baojie Li, Nir Barzilai, Manju Surana, Harry Hou, Norman Fleischer, Ronald A. DePinho, Luciano Rossetti, Shimon Efrat

    出版 1995
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  12. 12
    Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

    Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening 由 Dwight D. Koeberl, Sarah P. Young, Niels Gregersen, Jerry Vockley, Wendy E. Smith, Daniel K. Benjamin, Yan An, S. D. Weavil, Shu Chaing, Deeksha Bali, Marie McDonald, Priya S. Kishnani, Ying-Tsong Chen, David S. Millington

    出版 2003
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  13. 13
    Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

    Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy 由 Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater, Deeksha Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine Rehder, Eleanor G. Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki‐Szymańska, Nesrin Karabul, Amy Rosenburg, Priya S. Kishnani

    出版 2015
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    Errata/Corrigenda
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  14. 14
    CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

    CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy 由 Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater, Deeksha Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine Rehder, Eleanor G. Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki‐Szymańska, Nesrin Karabul, Amy Rosenburg, Priya S. Kishnani

    出版 2015
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  15. 15
    Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

    Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease 由 Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg, Priya S. Kishnani

    出版 2012
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  16. 16
    Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

    Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina 由 Stacey Lee, Kristin Clinard, Sarah P. Young, Catherine Rehder, Zheng Fan, Ali S. Çalıkoğlu, Deeksha Bali, Donald B. Bailey, Lisa M. Gehtland, David S. Millington, Hari S. Patel, Sara E. Beckloff, Scott J. Zimmerman, Cynthia M. Powell, Jennifer Taylor

    出版 2020
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  17. 17
    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy... 由 Suhrad G. Banugaria, Sean N. Prater, Trusha Patel, Stephanie DeArmey, Christie Milleson, Kathryn L. Berrier, Deeksha Bali, Catherine Rehder, Julian Raiman, Raymond A. Wang, François Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S. Rosenberg, Priya S. Kishnani

    出版 2013
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  18. 18
    Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) 由 Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El‐Gharbawy, Laurie M. Brown, Stephen G. Kahler, Surekha Pendyal, Katalin M. Ross, Laurie A. Tsilianidis, David A. Weinstein, Michael S. Watson

    出版 2019
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  19. 19
    Increased α2 Subunit–Associated AMPK Activity and <i>PRKAG2</i> Cardiomyopathy

    Increased α2 Subunit–Associated AMPK Activity and <i>PRKAG2</i> Cardiomyopathy 由 Ferhaan Ahmad, Michael Arad, Nicolas Musi, Huamei He, Cordula M. Wolf, Dorothy Branco, Antonio R. Pérez‐Atayde, David Stapleton, Deeksha Bali, Yanqiu Xing, Rong Tian, Laurie J. Goodyear, Charles I. Berul, Joanne S. Ingwall, Christine E. Seidman, J G Seidman

    出版 2005
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  20. 20
    Phase I study of liver depot gene therapy in late-onset Pompe disease

    Phase I study of liver depot gene therapy in late-onset Pompe disease 由 Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie DeArmey, Sang-oh Han, Tracy Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

    出版 2023
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