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
The emerging phenotype of late-onset Pompe disease: A systematic literature review
Chan, Justin, Desai, Ankit K., Kazi, Zoheb B., Corey, Kaitlyn, Austin, Stephanie, Hobson-Webb, Lisa D., Case, Laura E., Jones, Harrison N., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Journal Article
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry
Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S
Published in BMC musculoskeletal disorders (14.02.2019)
Published in BMC musculoskeletal disorders (14.02.2019)
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Journal Article
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
van der Ploeg, Ans T, Clemens, Paula R, Corzo, Deyanira, Escolar, Diana M, Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S, Laforet, Pascal, Lake, Stephen L, Lange, Dale J, Leshner, Robert T, Mayhew, Jill E, Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J, Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I, van der Beek, Nadine A, Wasserstein, Melissa, Zivkovic, Sasa A
Published in The New England journal of medicine (15.04.2010)
Published in The New England journal of medicine (15.04.2010)
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Journal Article
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
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
Published in Molecular genetics and metabolism (2010)
Published in Molecular genetics and metabolism (2010)
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Journal Article
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
Dahir, Kathryn M, Seefried, Lothar, Kishnani, Priya S, Petryk, Anna, Högler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel Ãngel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
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Journal Article
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Kishnani, Priya S, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Messali, Andrew, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar, Dahir, Kathryn M
Published in Orphanet journal of rare diseases (08.03.2024)
Published in Orphanet journal of rare diseases (08.03.2024)
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Journal Article
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
Banugaria, Suhrad G, Prater, Sean N, Ng, Yiu-Ki, Kobori, Joyce A, Finkel, Richard S, Ladda, Roger L, Chen, Yuan-Tsong, Rosenberg, Amy S, Kishnani, Priya S
Published in Genetics in medicine (01.08.2011)
Published in Genetics in medicine (01.08.2011)
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Journal Article
Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up
Spiridigliozzi, Gail A., Keeling, Lori A., Stefanescu, Mihaela, Li, Cindy, Austin, Stephanie, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.06.2017)
Published in Molecular genetics and metabolism (01.06.2017)
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Journal Article
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Kishnani, Priya S, Kronn, David, Suwazono, Shugo, Broomfield, Alexander, Llerena, Juan, Al-Hassnan, Zuhair Nasser, Batista, Julie L, Wilson, Kathryn M, Periquet, Magali, Daba, Nadia, Hahn, Andreas, Chien, Yin-Hsiu
Published in Orphanet journal of rare diseases (06.12.2023)
Published in Orphanet journal of rare diseases (06.12.2023)
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Journal Article
Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease
Kishnani, Priya S, Rosenberg, Amy S, Mendelsohn, Nancy J, Messinger, Yoav H
Published in The New England journal of medicine (08.01.2009)
Published in The New England journal of medicine (08.01.2009)
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Journal Article
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort
Desai, Ankit K, Baloh, Carolyn H, Sleasman, John W, Rosenberg, Amy S, Kishnani, Priya S
Published in Frontiers in immunology (06.08.2020)
Published in Frontiers in immunology (06.08.2020)
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Journal Article
Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes
Raval, Kunil K., Tao, Ran, White, Brent E., De Lange, Willem J., Koonce, Chad H., Yu, Junying, Kishnani, Priya S., Thomson, James A., Mosher, Deane F., Ralphe, John C., Kamp, Timothy J.
Published in The Journal of biological chemistry (30.01.2015)
Published in The Journal of biological chemistry (30.01.2015)
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Journal Article
An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation
Desai, Ankit K, Shrivastava, Garima, Grant, Christina L, Wang, Raymond Y, Burt, Trevor D, Kishnani, Priya S
Published in Frontiers in immunology (2024)
Published in Frontiers in immunology (2024)
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Journal Article