The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
Feeney, Erin J, Austin, Stephanie, Chien, Yin-Hsiu, Mandel, Hanna, Schoser, Benedikt, Prater, Sean, Hwu, Wuh-Liang, Ralston, Evelyn, Kishnani, Priya S, Raben, Nina
Published in Acta neuropathologica communications (02.01.2014)
Published in Acta neuropathologica communications (02.01.2014)
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Journal Article
Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods
Crisp, Kelly D., Neel, Amy T., Amarasekara, Sathya, Marcus, Jill, Nichting, Gretchen, Korlimarla, Aditi, Kishnani, Priya S., Jones, Harrison N.
Published in Journal of clinical medicine (16.08.2021)
Published in Journal of clinical medicine (16.08.2021)
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Journal Article
Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity
Harfouche, Melodi, Kishnani, Priya S., Krusinska, Eva, Gault, Jamie, Sitaraman, Sheela, Sowinski, Amanda, Katz, Irina, Austin, Stephanie, Goldstein, Margi, Mulberg, Andrew E.
Published in Journal of patient-reported outcomes (09.10.2020)
Published in Journal of patient-reported outcomes (09.10.2020)
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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
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker
Young, Sarah P, Zhang, Haoyue, Corzo, Deyanira, Thurberg, Beth L, Bali, Deeksha, Kishnani, Priya S, Millington, David S
Published in Genetics in medicine (01.07.2009)
Published in Genetics in medicine (01.07.2009)
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Journal Article
Deconstructing Pompe Disease by Analyzing Single Muscle Fibers: "To See a World in a Grain of Sand..."
Raben, Nina, Takikita, Shoichi, Pittis, Maria G., Bembi, Bruno, Marie, Suely K.N., Roberts, Ashley, Page, Laura, Kishnani, Priya S., Schoser, Benedikt G.H., Chien, Yin-Hsiu, Ralston, Evelyn, Nagaraju, Kanneboyina, Plotz, Paul H.
Published in Autophagy (26.11.2007)
Published in Autophagy (26.11.2007)
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Journal Article
Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III
Young, Sarah P., Khan, Aleena, Stefanescu, Ela, Seifts, Andrea M., Hijazi, Ghada, Austin, Stephanie, Kishnani, Priya S.
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
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Journal Article
Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
Jones, Harrison N., Fernandes, Samuela, Hannah, William B., Kansagra, Sujay, Raynor, Eileen M., Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.06.2020)
Published in Molecular genetics and metabolism reports (01.06.2020)
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Journal Article
Gene therapy for glycogen storage diseases
Kishnani, Priya S, Sun, Baodong, Koeberl, Dwight D
Published in Human molecular genetics (01.10.2019)
Published in Human molecular genetics (01.10.2019)
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Journal Article
Pompe disease diagnosis and management guideline
Kishnani, Priya S, Steiner, Robert D, Bali, Deeksha, Berger, Kenneth, Byrne, Barry J, Case, Laura E, Case, Laura, Crowley, John F, Downs, Steven, Howell, R Rodney, Kravitz, Richard M, Mackey, Joanne, Marsden, Deborah, Martins, Anna Maria, Millington, David S, Nicolino, Marc, O'Grady, Gwen, Patterson, Marc C, Rapoport, David M, Slonim, Alfred, Spencer, Carolyn T, Tifft, Cynthia J, Watson, Michael S
Published in Genetics in medicine (01.05.2006)
Published in Genetics in medicine (01.05.2006)
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Journal Article
AAV Vector-mediated Reversal of Hypoglycemia in Canine and Murine Glycogen Storage Disease Type Ia
Koeberl, Dwight D, Pinto, Carlos, Sun, Baodong, Li, Songtao, Kozink, Daniel M, Benjamin, Daniel K, Demaster, Amanda K, Kruse, Meghan A, Vaughn, Valerie, Hillman, Steven, Bird, Andrew, Jackson, Mark, Brown, Talmage, Kishnani, Priya S, Chen, Yuan-Tsong
Published in Molecular therapy (01.04.2008)
Published in Molecular therapy (01.04.2008)
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Journal Article
Characterization of a canine model of glycogen storage disease type IIIa
Yi, Haiqing, Thurberg, Beth L, Curtis, Sarah, Austin, Stephanie, Fyfe, John, Koeberl, Dwight D, Kishnani, Priya S, Sun, Baodong
Published in Disease models & mechanisms (01.11.2012)
Published in Disease models & mechanisms (01.11.2012)
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Journal Article
The electrodiagnostic characteristics of Glycogen Storage Disease Type III
Hobson-Webb, Lisa D., Austin, Stephanie L., Bali, Deeksha S., Kishnani, Priya S.
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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Journal Article
Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III
Goldstein, Jennifer L., Austin, Stephanie L., Boyette, Keri, Kanaly, Angela, Veerapandiyan, Aravind, Rehder, Catherine, Kishnani, Priya S., Bali, Deeksha S.
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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Journal Article
Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy
Prakalapakorn, S Grace, Proia, Alan D, Yanovitch, Tammy L, DeArmey, Stephanie, Mendelsohn, Nancy J, Aleck, Kyrieckos A, Kishnani, Priya S
Published in Journal of pediatric ophthalmology and strabismus (01.11.2014)
Published in Journal of pediatric ophthalmology and strabismus (01.11.2014)
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Journal Article
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum
Potnis, Kunal C., Flueckinger, Lauren B., DeArmey, Stephanie M., Alcalay, Roy N., Cooney, Jeffrey W., Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.12.2018)
Published in Molecular genetics and metabolism reports (01.12.2018)
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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
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
Ha, Christine I., DeArmey, Stephanie, Cope, Heidi, Rairikar, Mugdha, Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.09.2017)
Published in Molecular genetics and metabolism reports (01.09.2017)
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Journal Article