Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation

por Desai, Ankit K., Walters, Crista K., Cope, Heidi L., Kazi, Zoheb B., DeArmey, Stephanie M., Kishnani, Priya S.
Publicado en Mol Genet Metab (2017)

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

por Potnis, Kunal C., Flueckinger, Lauren B., DeArmey, Stephanie M., Alcalay, Roy N., Cooney, Jeffrey W., Kishnani, Priya S.
Publicado en Mol Genet Metab Rep (2018)

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

por Mori, Mari, Haskell, Gloria, Kazi, Zoheb, Zhu, Xiaolin, DeArmey, Stephanie M., Goldstein, Jennifer L., Bali, Deeksha, Rehder, Catherine, Cirulli, Elizabeth T., Kishnani, Priya S.
Publicado en Mol Genet Metab (2017)

The emerging phenotype of long-term survivors with infantile Pompe disease

por Prater, Sean N., Banugaria, Suhrad G., DeArmey, Stephanie M., Botha, Eleanor G., Stege, Erin M., Case, Laura E., Jones, Harrison N., Phornphutkul, Chanika, Wang, Raymond Y., Young, Sarah P., Kishnani, Priya S.
Publicado 2012

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy...

por Banugaria, Suhrad G., Prater, Sean N., Patel, Trusha T., DeArmey, Stephanie M., Milleson, Christie, Sheets, Kathryn B., Bali, Deeksha S., Rehder, Catherine W., Raiman, Julian A. J., Wang, Raymond A., Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S., Kishnani, Priya S.
Publicado 2013