检索结果 - Bali, Deeksha

Current State of the Art of Newborn Screening for Lysosomal Storage Disorders 由 Millington, David S., Bali, Deeksha S.

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Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs 由 Millington, David S., Bali, Deeksha M.

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Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots 由 Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.

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Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots 由 Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.

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

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β2 Agonists Enhance the Efficacy of Simultaneous Enzyme Replacement Therapy in Murine Pompe Disease 由 Koeberl, Dwight D., Li, Songtao, Dai, Jian, Thurberg, Beth L., Bali, Deeksha, Kishnani, Priya S.

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Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience 由 Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.

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Abnormalities in Glycogen Metabolism in a Patient with Alpers’ Syndrome Presenting with Hypoglycemia 由 Simon, Mariella, Chang, Richard C., Bali, Deeksha S., Wong, Lee-Jun, Peng, Ying, Abdenur, Jose E.

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Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency 由 Bali, Deeksha S., Goldstein, Jennifer L., Fredrickson, Keri, Austin, Stephanie, Pendyal, Surekha, Rehder, Catherine, Kishnani, Priya S.

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

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Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease 由 Wang, Gensheng, Young, Sarah P, Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D

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Corrigendum to “Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease” 由 Wang, Gensheng, Young, Sarah P, Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D

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Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease 由 Wang, Gensheng, Young, Sarah P., Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D.

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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases? 由 El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.

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Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics 由 Sista, Ramakrishna S., Wang, Tong, Wu, Ning, Graham, Carrie, Eckhardt, Allen, Bali, Deeksha, Millington, David S., Pamula, Vamsee K.

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Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns 由 Graham, Carrie, Sista, Ramakrishna S, Kleinert, Jairus, Wu, Ning, Eckhardt, Allen, Bali, Deeksha, Millington, David S, Pamula, Vamsee K.

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Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory? 由 Millington, David S., Sista, Ramakrishna, Eckhardt, Allen, Rouse, Jeremy, Bali, Deeksha, Goldberg, Ronald, Cotten, Michael, Buckley, Rebecca, Pamula, Vamsee

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Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease 由 Li, Songtao, Sun, Baodong, Nilsson, Mats I., Bird, Andrew, Tarnopolsky, Mark A., Thurberg, Beth L., Bali, Deeksha, Koeberl, Dwight D.

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Echocardiographic Manifestations of Glycogen Storage Disease III: Increase in Wall Thickness and Left Ventricular Mass over Time 由 Vertilus, Shawyntee M., Austin, Stephanie L., Foster, Kimberly S., Boyette, Keri E., Bali, Deeksha, Li, Jennifer S., Kishnani, Priya S., Wechsler, Stephanie Burns

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Multiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform 由 Sista, Ramakrishna S., Wang, Tong, Wu, Ning, Graham, Carrie, Eckhardt, Allen, Winger, Theodore, Srinivasan, Vijay, Bali, Deeksha, Millington, David S., Pamula, Vamsee K.

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