Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.
Published in Genetics in medicine (01.11.2014)
Published in Genetics in medicine (01.11.2014)
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Journal Article
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.
Published in Molecular genetics and metabolism (01.07.2020)
Published in Molecular genetics and metabolism (01.07.2020)
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Journal Article
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience
Bali, Deeksha S., Goldstein, Jennifer L., Banugaria, Suhrad, Dai, Jian, Mackey, Joanne, Rehder, Catherine, Kishnani, Priya S.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
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Journal Article
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
Banugaria, Suhrad G, Prater, Sean N, Patel, Trusha T, Dearmey, Stephanie M, Milleson, Christie, Sheets, Kathryn B, Bali, Deeksha S, Rehder, Catherine W, Raiman, Julian A J, Wang, Raymond A, Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S, Kishnani, Priya S
Published in PloS one (25.06.2013)
Published in PloS one (25.06.2013)
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Journal Article
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
Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.
Published in Frontiers in genetics (30.09.2022)
Published in Frontiers in genetics (30.09.2022)
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Journal Article
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy
Desai, Ankit K., Kazi, Zoheb B., Bali, Deeksha S., Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.09.2019)
Published in Molecular genetics and metabolism reports (01.09.2019)
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Journal Article
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Koeberl, Dwight D., Luo, Xiaoyan, Sun, Baodong, McVie-Wylie, Alison, Dai, Jian, Li, Songtao, Banugaria, Suhrad G., Chen, Y.-T., Bali, Deeksha S.
Published in Molecular genetics and metabolism (01.06.2011)
Published in Molecular genetics and metabolism (01.06.2011)
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Journal Article
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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Journal Article
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Young, Sarah P., Piraud, Monique, Goldstein, Jennifer L., Zhang, Haoyue, Rehder, Catherine, Laforet, Pascal, Kishnani, Priya S., Millington, David S., Bashir, Mustafa R., Bali, Deeksha S.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2012)
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Journal Article
Current State of the Art of Newborn Screening for Lysosomal Storage Disorders
Millington, David, Bali, Deeksha
Published in International journal of neonatal screening (01.09.2018)
Published in International journal of neonatal screening (01.09.2018)
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Journal Article
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review
Magoulas, Pilar L., MS, El-Hattab, Ayman W., MD, Roy, Angshumoy, MD, PhD, Bali, Deeksha S., PhD, Finegold, Milton J., MD, Craigen, William J., MD, PhD
Published in Human pathology (01.06.2012)
Published in Human pathology (01.06.2012)
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Journal Article
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder
Li, Sing-Chung, Chen, Chiao-Ming, Goldstein, Jennifer L., Wu, Jer-Yuarn, Lemyre, Emmanuelle, Burrow, Thomas Andrew, Kang, Peter B., Chen, Yuan-Tsong, Bali, Deeksha S.
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
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)
Kishnani, Priya S., Goldstein, Jennifer, Austin, Stephanie L., Arn, Pamela, Bachrach, Bert, Bali, Deeksha S., Chung, Wendy K., El-Gharbawy, Areeg, Brown, Laurie M., Kahler, Stephen, Pendyal, Surekha, Ross, Katalin M., Tsilianidis, Laurie, Weinstein, David A., Watson, Michael S.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.12.2015)
Published in Molecular genetics and metabolism reports (01.12.2015)
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Journal Article
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
Koch, Rebecca L., Soler-Alfonso, Claudia, Kiely, Bridget T., Asai, Akihiro, Smith, Ariana L., Bali, Deeksha S., Kang, Peter B., Landstrom, Andrew P., Akman, H. Orhan, Burrow, T. Andrew, Orthmann-Murphy, Jennifer L., Goldman, Deberah S., Pendyal, Surekha, El-Gharbawy, Areeg H., Austin, Stephanie L., Case, Laura E., Schiffmann, Raphael, Hirano, Michio, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy
Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenburg, Amy S., Kishnani, Priya S.
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Journal Article
Glycogen Storage Disease Type III diagnosis and management guidelines
Kishnani, Priya S., Austin, Stephanie L., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Case, Laura E., Chung, Wendy K., Desai, Dev M., El-Gharbawy, Areeg, Haller, Ronald, Smit, G. Peter A., Smith, Alastair D., Hobson-Webb, Lisa D., Wechsler, Stephanie Burns, Weinstein, David A., Watson, Michael S.
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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Journal Article
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene
Bali, Deeksha S., Goldstein, Jennifer L., Fredrickson, Keri, Rehder, Catherine, Boney, Anne, Austin, Stephanie, Weinstein, David A., Lutz, Richard, Boneh, Avihu, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2014)
Published in Molecular genetics and metabolism (01.03.2014)
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Journal Article