The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

by Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani
Published 2020-03-01

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

by Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
Published 2021-06-01

Parkinson's disease prevalence in Fabry disease: A survey study

by Adina H. Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J. Desnick, Roy N. Alcalay
Published 2018-03-01

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

by Hetanshi Naik, Jessica R. Overbey, Robert J. Desnick, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani Singal, Manisha Balwani
Published 2019-11-01