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
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
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease
Case, Laura E, Bjartmar, Carl, Morgan, Claire, Casey, Robin, Charrow, Joel, Clancy, John P, Dasouki, Majed, DeArmey, Stephanie, Nedd, Khan, Nevins, Mary, Peters, Heidi, Phillips, Dawn, Spigelman, Zachary, Tifft, Cynthia, Kishnani, Priya S
Published in Neuromuscular disorders : NMD (01.04.2015)
Published in Neuromuscular disorders : NMD (01.04.2015)
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Journal Article
Further understanding the connection between Alzheimer's disease and Down syndrome
Snyder, Heather M., Bain, Lisa J., Brickman, Adam M., Carrillo, Maria C., Esbensen, Anna J., Espinosa, Joaquin M., Fernandez, Fabian, Fortea, Juan, Hartley, Sigan L., Head, Elizabeth, Hendrix, James, Kishnani, Priya S., Lai, Florence, Lao, Patrick, Lemere, Cynthia, Mobley, William, Mufson, Elliott J., Potter, Huntington, Zaman, Shahid H., Granholm, Ann‐Charlotte, Rosas, H. Diana, Strydom, Andre, Whitten, Michelle Sie, Rafii, Michael S.
Published in Alzheimer's & dementia (01.07.2020)
Published in Alzheimer's & dementia (01.07.2020)
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Journal Article
Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered
El-Gharbawy, Areeg H., Bhat, Gifty, Murillo, Jaime E., Thurberg, Beth L., Kampmann, Christoph, Mengel, Karl-Eugen, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
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Journal Article
Premature Pubarche in Children with Pompe Disease
Tan, Queenie K.-G., MD, PhD, Stockton, David W., MD, Pivnick, Eniko, MD, Choudhri, Asim F., MD, Hines-Dowell, Stacy, DNP, APNG, Pena, Loren D.M., MD, PhD, Deimling, Melissa A., MD, Freemark, Michael S., MD, Kishnani, Priya S., MD
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Journal Article
Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia
Kishnani, Priya S., Rockman-Greenberg, Cheryl, Rauch, Frank, Bhatti, M. Tariq, Moseley, Scott, Denker, Andrew E., Watsky, Eric, Whyte, Michael P.
Published in Bone (New York, N.Y.) (01.04.2019)
Published in Bone (New York, N.Y.) (01.04.2019)
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Journal Article
Emerging therapies for glycogen storage disease type I
Koeberl, D.D, Kishnani, P.S, Bali, D, Chen, Y-T
Published in Trends in endocrinology and metabolism (01.07.2009)
Published in Trends in endocrinology and metabolism (01.07.2009)
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Journal Article
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX
Fernandes, Samuela A., Cooper, Gabrielle E., Gibson, Rebecca Anne, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.11.2020)
Published in Molecular genetics and metabolism (01.11.2020)
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Journal Article
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
Huggins, Erin, Holland, Maggie, Case, Laura E., Blount, Janet, Landstrom, Andrew P., Jones, Harrison N., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2022)
Published in Molecular genetics and metabolism (01.03.2022)
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Journal Article