Experiences and Concerns of Patients with Recurrent Attacks of Acute Hepatic Porphyria: A Qualitative Study

Por Naik, Hetanshi, Stoecker, Mikayla, Sanderson, Saskia C., Balwani, Manisha, Desnick, Robert J.
Publicado no Mol Genet Metab (2016)

ACUTE INTERMITTENT PORPHYRIA IN CHILDREN: A CASE REPORT AND REVIEW OF THE LITERATURE

Por Balwani, Manisha, Singh, Preeti, Seth, Anju, Debnath, Ekta Malik, Naik, Hetanshi, Doheny, Dana, Chen, Brenden, Yasuda, Makiko, Desnick, Robert J.
Publicado no Mol Genet Metab (2016)

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 no Mol Genet Metab Rep (2017)

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 no PLoS One (2016)

Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias

Por Gou, Eric W., Balwani, Manisha, Bissell, D. Montgomery, Bloomer, Joseph R., Bonkovsky, Herbert L., Desnick, Robert J., Naik, Hetanshi, Phillips, John D., Singal, Ashwani K., Wang, Bruce, Keel, Sioban, Anderson, Karl E.
Publicado no Clin Chem (2015)

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

Por Balwani, Manisha, Naik, Hetanshi, Anderson, Karl E., Bissell, D. Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L., Phillips, John D., Overbey, Jessica R., Wang, Bruce, Singal, Ashwani K., Liu, Lawrence U., Desnick, Robert J.
Publicado no JAMA Dermatol (2017)

Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium

Por Bonkovsky, Herbert L., Maddukuri, Vinaya C., Yazici, Cemal, Anderson, Karl E., Bissell, D. Montgomery, Bloomer, Joseph R., Phillips, John D., Naik, Hetanshi, Peter, Inga, Baillargeon, Gwen, Bossi, Krista, Gandolfo, Laura, Light, Carrie, Bishop, David, Desnick, Robert J.
Publicado no Am J Med (2014)

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Por Yasuda, Makiko, Erwin, Angelika L, Liu, Lawrence U, Balwani, Manisha, Chen, Brenden, Kadirvel, Senkottuvelan, Gan, Lin, Fiel, M Isabel, Gordon, Ronald E, Yu, Chunli, Clavero, Sonia, Arvelakis, Antonios, Naik, Hetanshi, Martin, L David, Phillips, John D, Anderson, Karl E, Sadagoparamanujam, Vaithamanithi M, Florman, Sander S, Desnick, Robert J
Publicado no Mol Med (2015)

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai

Por Scott, Stuart A, Owusu Obeng, Aniwaa, Botton, Mariana R, Yang, Yao, Scott, Erick R, Ellis, Stephen B, Wallsten, Richard, Kaszemacher, Tom, Zhou, Xiang, Chen, Rong, Nicoletti, Paola, Naik, Hetanshi, Kenny, Eimear E, Vega, Aida, Waite, Eva, Diaz, George A, Dudley, Joel, Halperin, Jonathan L, Edelmann, Lisa, Kasarskis, Andrew, Hulot, Jean-Sébastien, Peter, Inga, Bottinger, Erwin P, Hirschhorn, Kurt, Sklar, Pamela, Cho, Judy H, Desnick, Robert J, Schadt, Eric E
Publicado no Pharmacogenomics (2017)

Afamelanotide for Erythropoietic Protoporphyria

Por Langendonk, Janneke G., Balwani, Manisha, Anderson, Karl E., Bonkovsky, Herbert L., Anstey, Alexander V., Bissell, D. Montgomery, Bloomer, Joseph, Edwards, Chris, Neumann, Norbert J., Parker, Charles, Phillips, John D., Lim, Henry W., Hamzavi, Iltefat, Deybach, Jean-Charles, Kauppinen, Raili, Rhodes, Lesley E., Frank, Jorge, Murphy, Gillian M., Karstens, Francois P.J., Sijbrands, Eric J.G., de Rooij, Felix W.M., Lebwohl, Mark, Naik, Hetanshi, Goding, Colin R., Wilson, J.H. Paul, Desnick, Robert J.
Publicado no N Engl J Med (2015)