Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

por Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J
Publicado 2014

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

por Mistry, Pramod K, Deegan, Patrick, Vellodi, Ashok, Cole, J Alexander, Yeh, Michael, Weinreb, Neal J
Publicado 2009

Reducing selection bias in case-control studies from rare disease registries

por Cole, J Alexander, Taylor, John S, Hangartner, Thomas N, Weinreb, Neal J, Mistry, Pramod K, Khan, Aneal
Publicado 2011

Physiologically‐Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug–Drug Interactions

por Sahasrabudhe, Siddhee A., Cheng, Shen, Al‐Kofahi, Mahmoud, Jarnes, Jeanine R., Weinreb, Neal J., Kartha, Reena V.
Publicado 2022

The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction...

por Mistry, Pramod K., Kishnani, Priya S., Balwani, Manisha, Charrow, Joel M., Hull, Judy, Weinreb, Neal J., Cox, Timothy M.
Publicado 2023

Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

por Weinreb, Neal J., Finegold, David N., Feingold, Eleanor, Zeng, Zhen, Rosenbloom, Barry E., Shankar, Suma P., Amato, Dominick
Publicado 2015

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado 2012

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado 2013

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry

por Rosenbloom, Barry E., Cappellini, Maria Domenica, Weinreb, Neal J., Dragosky, Marta, Revel‐Vilk, Shoshana, Batista, Julie L., Sekulic, Davorka, Mistry, Pramod K.
Publicado 2022

Patients with Gaucher disease display systemic oxidative stress dependent on therapy status

por Kartha, Reena V., Terluk, Marcia R., Brown, Roland, Travis, Abigail, Mishra, Usha R., Rudser, Kyle, Lau, Heather, Jarnes, Jeanine R., Cloyd, James C., Weinreb, Neal J.
Publicado 2020

Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS)

por Titievsky, Lina, Schuster, Tilman, Wang, Ronnie, Younus, Muhammad, Palladino, Andrew, Quazi, Kabir, Wajnrajch, Michael P., Hernandez, Betina, Becker, Pamela S., Weinreb, Neal J., Chambers, Christina, Mansfield, Roy, Taylor, Louise, Tseng, Li-Jung, Kaplan, Paige
Publicado 2022

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

por Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R
Publicado 2015

Hepatocellular carcinoma in Gaucher disease: an international case series

por Regenboog, Martine, van Dussen, Laura, Verheij, Joanne, Weinreb, Neal J., Santosa, David, vom Dahl, Stephan, Häussinger, Dieter, Müller, Meike N., Canbay, Ali, Rigoldi, Miriam, Piperno, Alberto, Dinur, Tama, Zimran, Ari, Mistry, Pramod K., Salah, Karima Yousfi, Belmatoug, Nadia, Kuter, David J., Hollak, Carla E. M.
Publicado 2018

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

por Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari
Publicado 2019