Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations

by Pankaj Prasun, Lauren A. Bailey, Priya S. Kishnani
Published 2014-01-01

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

by Ankit K. Desai, Zoheb B. Kazi, Deeksha S. Bali, Priya S. Kishnani
Published 2019-09-01

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

by Sarah J. Hart, Gordon Worley, Priya S. Kishnani, Heather Van Mater
Published 2021-03-01

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

by Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani
Published 2016-12-01

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme

by Jeong-A Lim, Su Jin Choi, Fengqin Gao, Priya S. Kishnani, Baodong Sun
Published 2020-09-01

Behavioral, social and school functioning in children with Pompe disease

by Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani
Published 2020-12-01

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

by Christine I. Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S. Kishnani
Published 2017-09-01

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

by Ankit K. Desai, Carolyn H. Baloh, John W. Sleasman, Amy S. Rosenberg, Priya S. Kishnani
Published 2020-08-01

Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease

by Jeong-A Lim, Haiqing Yi, Fengqin Gao, Nina Raben, Priya S. Kishnani, Baodong Sun
Published 2019-03-01

Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function

by Lisa D. Hobson-Webb, Paul J. Zwelling, Shruti S. Raja, Ashley N. Pifer, Priya S. Kishnani
Published 2021-09-01

A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease

by Han-Hyuk Lim, Haiqing Yi, Takashi K. Kishimoto, Fengqin Gao, Baodong Sun, Priya S. Kishnani
Published 2017-12-01

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

by Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
Published 2021-06-01

New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside

by Aditi Korlimarla, Jeong-A Lim, Paul McIntosh, Kanecia Zimmerman, Baodong D. Sun, Priya S. Kishnani
Published 2021-07-01

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

by Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani
Published 2020-12-01

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

by Daniel C. Julien, Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, Priya S. Kishnani
Published 2020-05-01

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

by Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani
Published 2020-06-01

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III

by Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani
Published 2021-03-01

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

by Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
Published 2018-03-01

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

by Deeksha S. Bali, Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, Priya S. Kishnani
Published 2015-12-01

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.

by Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland
Published 2013-01-01