A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female

por Ramzan, Adil, Cao, Jenny Jia Ling, Frazer, John S, Stein, Penelope, Ahmad, Shakeel
Publicado 2023

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase

por Demydchuk, Mykhaylo, Hill, Chris H., Zhou, Aiwu, Bunkóczi, Gábor, Stein, Penelope E., Marchesan, Denis, Deane, Janet E., Read, Randy J.
Publicado 2017

A redox switch in angiotensinogen modulates angiotensin release

por Zhou, Aiwu, Carrell, Robin W, Murphy, Michael P, Wei, Zhenquan, Yan, Yahui, Stanley, Peter L.D., Stein, Penelope E, Pipkin, Fiona Broughton, Read, Randy J
Publicado 2010

Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study

por Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera‐Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charles, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane
Publicado 2021

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