Priya S. Kishnani is Chief of Medical Genetics, Professor of Pediatrics, and a clinician scientist at Duke who is dedicated to the care and treatment of individuals with Pompe disease and other metabolic disorders. In the last two decades her team at Duke has made invaluable contributions in the field of Pompe disease. Dr. Kishnani has been closely involved since the first clinical trial of alglucosidase alfa was started at Duke University Medical Center using the Chinese hamster ovary cell line. The recognition of CRIM negative status and high sustained antibody titers to alglucosidase alfa as negative prognostic factors are some of the contributions made by her team. Development of successful immune modulation strategies to mitigate the immune response to therapeutic proteins and development of new therapies for Pompe disease, Down syndrome, and other glycogen storage diseases are the focus of her Program at Duke.
The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management†
Article first published online: 17 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Advancements in Pompe Disease
Volume 160C, Issue 1, pages 1–7, 15 February 2012
How to Cite
Kishnani, P. S., Beckemeyer, A. A. and Mendelsohn, N. J. (2012), The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am. J. Med. Genet., 160C: 1–7. doi: 10.1002/ajmg.c.31324
How to cite this article: Kishnani PS, Beckemeyer AA, Mendelsohn NJ. 2012. The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet Part C Semin Med Genet 160C:1–7.
- Issue published online: 23 JAN 2012
- Article first published online: 17 JAN 2012
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