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
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
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
Gayed, Matthew M, Sgobbi, Paulo, Pinto, Wladimir Bocca Viera De Rezende, Kishnani, Priya S, Koch, Rebecca L
Published in Frontiers in genetics (18.12.2023)
Published in Frontiers in genetics (18.12.2023)
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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
Successful AAV8 readministration: Suppression of capsid‐specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease
Choi, Su Jin, Yi, John S., Lim, Jeong‐A, Tedder, Thomas F., Koeberl, Dwight D., Jeck, William, Desai, Ankit K., Rosenberg, Amy, Sun, Baodong, Kishnani, Priya S.
Published in The journal of gene medicine (01.08.2023)
Published in The journal of gene medicine (01.08.2023)
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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
The emerging phenotype of long-term survivors with infantile Pompe disease
Prater, Sean N., Banugaria, Suhrad G., DeArmey, Stephanie M., Botha, Eleanor G., Stege, Erin M., Case, Laura E., Jones, Harrison N., Phornphutkul, Chanika, Wang, Raymond Y., Young, Sarah P., Kishnani, Priya S.
Published in Genetics in medicine (01.09.2012)
Published in Genetics in medicine (01.09.2012)
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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
Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date
Hart, Sarah J., Visootsak, Jeannie, Tamburri, Paul, Phuong, Patrick, Baumer, Nicole, Hernandez, Maria‐Clemencia, Skotko, Brian G., Ochoa‐Lubinoff, Cesar, Liogier D'Ardhuy, Xavier, Kishnani, Priya S., Spiridigliozzi, Gail A.
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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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
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation
Curelaru, Shiri, Desai, Ankit K., Fink, Daniel, Zehavi, Yoav, Kishnani, Priya S., Spiegel, Ronen
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
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Journal Article
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy
Kim, Katherine H., Desai, Ankit K., Vucko, Erika R., Boggs, Tracy, Kishnani, Priya S., Burton, Barbara K.
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Journal Article