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

por Mori, Mari, DeArmey, Stephanie L., Weber, Thomas J., Kishnani, Priya S.
Publicado 2016

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

por Ha, Christine I., DeArmey, Stephanie, Cope, Heidi, Rairikar, Mugdha, Kishnani, Priya S.
Publicado 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 2018

Glucosylsphingosine (Lyso-Gb(1)): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

por Gayed, Matthew M., Jung, Seung-Hye, Huggins, Erin, Rodriguez-Rassi, Eleanor, DeArmey, Stephanie, Kishnani, Priya Sunil, Stiles, Ashlee R.
Publicado 2022

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