Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Stephanie M, Dearmey"'
Autor:
Kunal C. Potnis, Lauren B. Flueckinger, Stephanie M. DeArmey, Roy N. Alcalay, Jeffrey W. Cooney, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss , Pp 69-72 (2018)
Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-
Externí odkaz:
https://doaj.org/article/f3a1fdda9809484794575bb8845e466d
Autor:
Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M Dearmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S Rosenberg, Priya S Kishnani
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67052 (2013)
Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death.
Externí odkaz:
https://doaj.org/article/18fa0e438966415a88a3734dd619fdd0
Autor:
Priya S, Kishnani, Zoheb B, Kazi, Kathryn L, Berrier, Stephanie M, Dearmey, Deeksha S, Bali, Amy S, Rosenberg
Publikováno v:
Journal of neuromuscular diseases. 2(s1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9654e687809f78c9bf24763ba721e99c
https://pubmed.ncbi.nlm.nih.gov/27858605
https://pubmed.ncbi.nlm.nih.gov/27858605