A new look at an old disease: Is Pompe disease a neuromuscular disorder with CNS involvement?

Date
2020-02
Authors
Korlimarla, Aditi
Chen, Steven
Austin, Stephanie L
Provenzale, James M
Kishnani, Priya S
Repository Usage Stats
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Type
Conference
Subject
Science & Technology
Life Sciences & Biomedicine
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
Research & Experimental Medicine
Permalink
https://hdl.handle.net/10161/22340
Published Version (Please cite this version)
10.1016/j.ymgme.2019.11.230
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Scholars@Duke

Kishnani

Priya Sunil Kishnani

Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders  with a special focus on liver Glycogen storage disorders, lysosomal disorders with a special focus on Pompe disease, Down syndrome and hypophosphatasia2) ) The development of new therapies such
Korlimarla

Aditi Korlimarla

Medical Instructor in the Department of Pediatrics
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