Digital Health Applications for Pharmacogenetic Clinical Trials

por Naik, Hetanshi, Palaniappan, Latha, Ashley, Euan A., Scott, Stuart A.
Publicado 2020

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

por Fierro, Luca, Nesheiwat, Nora, Naik, Hetanshi, Mistry, Pramod K., Balwani, Manisha
Publicado 2021

Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria

por Mathias, Susan D., Burke, Laurie, Colwell, Hilary H., Mensing, George, Savage, Will, Naik, Hetanshi
Publicado 2023

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

por Fierro, Luca, Nesheiwat, Nora, Naik, Hetanshi, Narayanan, Praveena, Mistry, Pramod K., Balwani, Manisha
Publicado 2021

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

por Zeid, Natasha, Stauffer, Chanan, Yang, Amy, Naik, Hetanshi, Fierro, Luca, Ganesh, Jaya, Balwani, Manisha
Publicado 2020

eP187: Decentralization of clinical trials in the era of COVID-19: Implications for rare disease trials

por Manjrekar, Kriti, Freeman, Mary, Hedstrom, Karli, Fierro, Luca, Naik, Hetanshi, Diaz, George, Balwani, Manisha, Ganesh, Jaya
Publicado 2022

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

por Wise, Adina H., Yang, Amy, Naik, Hetanshi, Stauffer, Chanan, Zeid, Natasha, Liong, Christopher, Balwani, Manisha, Desnick, Robert J., Alcalay, Roy N.
Publicado 2017

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

por Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R., Bonkovsky, Herbert L., Bissell, D. Montgomery, Wang, Bruce, Phillips, John D., Desnick, Robert J., Anderson, Karl E.
Publicado 2022

Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C

por Bonkovsky, Herbert L., Rudnick, Sean P., Ma, Christopher D., Overbey, Jessica R., Wang, Kelly, Faust, Denise, Hallberg, Csilla, Hedstrom, Karli, Naik, Hetanshi, Moghe, Akshata, Anderson, Karl E.
Publicado 2023

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

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

The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda

por Farrell, Colin P., Overbey, Jessica R., Naik, Hetanshi, Nance, Danielle, McLaren, Gordon D., McLaren, Christine E., Zhou, Luming, Desnick, Robert J., Parker, Charles J., Phillips, John D.
Publicado 2016

Implementing a pharmacogenetic-driven algorithm to guide dual antiplatelet therapy (DAPT) in Caribbean Hispanics: protocol for a non-randomised clinical trial

por Hernandez-Suarez, Dagmar F, Melin, Kyle, Marin-Maldonado, Frances, Nunez, Hector J, Gonzalez, Ariel F, Gonzalez-Sepulveda, Lorena, Rivas-Tumanyan, Sona, Naik, Hetanshi, Ruaño, Gualberto, Scott, Stuart A, Duconge, Jorge
Publicado 2020

Evaluating the Patient Reported Outcomes Measurement Information System Scales in Acute Intermittent Porphyria

por Naik, Hetanshi, Overbey, Jessica R., Montgomery, Guy H., Winkel, Gary, Balwani, Manisha, Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Phillips, John D., Wang, Bruce, McGuire, Brendan, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, Desnick, Robert J.
Publicado 2019

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria

por Dickey, Amy K., Quick, Corbin, Ducamp, Sarah, Zhu, Zhaozhong, Feng, Yen-Chen A., Naik, Hetanshi, Balwani, Manisha, Anderson, Karl E., Lin, Xihong, Phillips, John E., Rebeiz, Lina, Bonkovsky, Herbert L., McGuire, Brendan M., Wang, Bruce, Chasman, Daniel I., Smoller, Jordan W., Fleming, Mark D., Christiani, David C.
Publicado 2020

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

por Gouya, Laurent, Ventura, Paolo, Balwani, Manisha, Bissell, D. Montgomery, Rees, David C., Stölzel, Ulrich, Phillips, John D., Kauppinen, Raili, Langendonk, Janneke G., Desnick, Robert J., Deybach, Jean‐Charles, Bonkovsky, Herbert L., Parker, Charles, Naik, Hetanshi, Badminton, Michael, Stein, Penelope E., Minder, Elisabeth, Windyga, Jerzy, Bruha, Radan, Cappellini, Maria Domenica, Sardh, Eliane, Harper, Pauline, Sandberg, Sverre, Aarsand, Aasne K., Andersen, Janice, Alegre, Félix, Ivanova, Aneta, Talbi, Neila, Chan, Amy, Querbes, William, Ko, John, Penz, Craig, Liu, Shangbin, Lin, Tim, Simon, Amy, Anderson, Karl E.
Publicado 2019