Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

Por Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
Publicado no Mol Genet Metab Rep (2014)

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

Por Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
Publicado no Mol Genet Metab Rep (2014)

β2 Agonists Enhance the Efficacy of Simultaneous Enzyme Replacement Therapy in Murine Pompe Disease

Por Koeberl, Dwight D., Li, Songtao, Dai, Jian, Thurberg, Beth L., Bali, Deeksha, Kishnani, Priya S.
Publicado em 2011

Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience

Por Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.
Publicado em 2012

Abnormalities in Glycogen Metabolism in a Patient with Alpers’ Syndrome Presenting with Hypoglycemia

Por Simon, Mariella, Chang, Richard C., Bali, Deeksha S., Wong, Lee-Jun, Peng, Ying, Abdenur, Jose E.
Publicado em 2013

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Por Demo, Erin, Frush, Donald, Gottfried, Marcia, Koepke, John, Boney, Anne, Bali, Deeksha, Chen, Y.T., Kishnani, Priya S.
Publicado em 2006

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

Por Wang, Gensheng, Young, Sarah P, Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D
Publicado no Mol Ther Methods Clin Dev (2014)

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

Por Wang, Gensheng, Young, Sarah P, Bali, Deeksha, Hutt, Julie, Li, Songtao, Benson, Janet, Koeberl, Dwight D
Publicado no Mol Ther Methods Clin Dev (2015)

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics

Por Sista, Ramakrishna S., Wang, Tong, Wu, Ning, Graham, Carrie, Eckhardt, Allen, Bali, Deeksha, Millington, David S., Pamula, Vamsee K.
Publicado em 2013

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns

Por Graham, Carrie, Sista, Ramakrishna S, Kleinert, Jairus, Wu, Ning, Eckhardt, Allen, Bali, Deeksha, Millington, David S, Pamula, Vamsee K.
Publicado em 2013

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

Por Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.
Publicado no Mol Genet Metab Rep (2015)

Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory?

Por Millington, David S., Sista, Ramakrishna, Eckhardt, Allen, Rouse, Jeremy, Bali, Deeksha, Goldberg, Ronald, Cotten, Michael, Buckley, Rebecca, Pamula, Vamsee
Publicado em 2010

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

Por Li, Songtao, Sun, Baodong, Nilsson, Mats I., Bird, Andrew, Tarnopolsky, Mark A., Thurberg, Beth L., Bali, Deeksha, Koeberl, Dwight D.
Publicado em 2013

Echocardiographic Manifestations of Glycogen Storage Disease III: Increase in Wall Thickness and Left Ventricular Mass over Time

Por Vertilus, Shawyntee M., Austin, Stephanie L., Foster, Kimberly S., Boyette, Keri E., Bali, Deeksha, Li, Jennifer S., Kishnani, Priya S., Wechsler, Stephanie Burns
Publicado em 2010

Multiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform

Por Sista, Ramakrishna S., Wang, Tong, Wu, Ning, Graham, Carrie, Eckhardt, Allen, Winger, Theodore, Srinivasan, Vijay, Bali, Deeksha, Millington, David S., Pamula, Vamsee K.
Publicado em 2013

Enhanced Efficacy of Enzyme Replacement Therapy in Pompe Disease Through Mannose-6-Phosphate Receptor Expression in Skeletal Muscle

Por Koeberl, Dwight D., Luo, Xiaoyan, Sun, Baodong, McVie-Wylie, Alison, Dai, Jian, Li, Songtao, Banugaria, Suhrad G., Chen, Y-T, Bali, Deeksha S.
Publicado em 2011

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

Por Bali, Deeksha S., Goldstein, Jennifer L, Fredrickson, Keri, Rehder, Catherine, Boney, Anne, Austin, Stephanie, Weinstein, David A., Lutz, Richard, Boneh, Avihu, Kishnani, Priya S.
Publicado em 2013

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

Por Mori, Mari, Bailey, Lauren A., Estrada, Januario, Rehder, Catherine W., Li, Jennifer S., Rogers, Joseph G., Bali, Deeksha S., Buckley, Anne F., Kishnani, Priya S.
Publicado no JIMD Rep (2016)

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

Por Kishnani, Priya S., Goldenberg, Paula C., DeArmey, Stephanie L., Heller, James, Benjamin, Danny, Young, Sarah, Bali, Deeksha, Smith, Sue Ann, Li, Jennifer S., Mandel, Hanna, Koeberl, Dwight, Rosenberg, Amy, Chen, Y-T
Publicado em 2010

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

Por Messinger, Yoav H., Mendelsohn, Nancy J., Rhead, William, Dimmock, David, Hershkovitz, Eli, Champion, Michael, Jones, Simon A., Olson, Rebecca, White, Amy, Wells, Cara, Bali, Deeksha, Case, Laura E., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.
Publicado em 2012