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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics Mak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y. Share Save
Clinical assessment of disease severity in patients with Fabry disease treated with pegunigalsidase alfa: An integrated analysis Hughes, Derralynn; Linhart, Ales; Wallace, Eric L.; Wilcox, William R.; Whitley, Chester B.; Vujkovac, Bojan; Koulinska, Irene; Piotti, Giovanni; Chertkoff, Raul; Alon, Sari; Sakov, Anat; Pisani, Antonio; Bernat, John A. Share Save
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Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR) Hughes, Derralynn; Wilcox, William; Hopkin, Robert J.; Ganesh, Jaya; Bernat, John; Goker-Alpan, Ozlem; Nicholls, Kathy; Deegan, Patrick; Pahl, Madeleine; Whitley, Chester B.; Chen, Michael; Cao, Liching; Schreeb, Katharina H. Share Save
Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study Bernat, John A.; Holida, Myrl; Waldek, Stephen; Wilcox, William R.; Longo, Nicola; Goker-Alpan, Ozlem; Wallace, Eric; Deegan, Patrick; Tondel, Camilla; Eyskens, Francois; Feldt-Rasmussen, Ulla; Hughes, Derralynn; Pisani, Antonio; Mehta, Ankit; Nedd, Khan; Warnock, David G.; Piotti, Giovanni; Wang, Meng; Almon-Brill, Einat; Alon, Sari; Chertkoff, Raul; Linhart, Ales Share Save
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save
Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebocontrolled Phase 3 study (RESTORE) DeBarber, Andrea; Kisanuki, Yaz; Nobrega, Paulo; Himes, Ryan; Jayadev, Suman; Bernat, John; Prakash, Vikram; Gibson, James; Larson, Austin; Sgobbi, Paulo; Murphy, Edward; Fedor, Brian; Foo, Cheryl Wong Po; Dutta, Rana; Imperiale, Michael; Garner, Will; Vig, Pamela; Duell, P. Barton; Perez, Sarah; Ramdhani, Ritesh; Saute, Jonas Share Save
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR) Hopkin, Robert J.; Ganesh, Jaya; Bernat, John; Goker-Alpan, Ozlem; Nicholls, Kathleen; Pahl, Madeleine V.; Deegan, Patrick B.; Whitley, Chester B.; Hughes, Derralynn; Cao, Liching; Chen, Michael; Shiue, Lisa; Rojkjaer, Lisa; Wilcox, William R. Share Save
Tolerability of pegunigalsidase alfa across the clinical program: Integrated analysis of infusion-related reactions by dosing regimens Hughes, Derralynn; Bernat, John; Linhart, Ales; Longo, Nicola; Mehta, Ankit; Tondel, Camilla; Vujkovac, Bojan; Rocco, Rossana; Koulinska, Irene; Chertkoff, Raul; Alon, Sari; Sakov, Anat; Wallace, Eric Share Save
Fabry patient's experience of pegunigalsidase alfa monthly infusion: PEOPLE study Mehta, Ankit; Eyskens, Francois J.; Pisani, Antonio; Feldt-Rasmussen, Ulla; Hughes, Derralynn; Deegan, Patrick B.; Goker-Alpan, Ozlem; Wallace, Eric; Bernat, John; Longo, Nicola; Bianchi, Francesco; Rocco, Rossana; Paleari, Ylenia Share Save
Tolerability of pegunigalsidase alfa across the clinical program: Integrated analysis of infusion-related reactions by prior enzyme replacement therapy Mehta, Ankit; Wallace, Eric; Linhart, Ales; Hughes, Derralynn; Longo, Nicola; Tondel, Camilla; Vujkovac, Bojan; Rocco, Rossana; Koulinska, Irene; Chertkoff, Raul; Alon, Sari; Sakov, Anat; Bernat, John Share Save
Assessment of immunogenicity from the pegunigalsidase alfa clinical trial program: Integrated analysis of de novo and treatment-boosted anti-drug antibodies Bernat, John; Hughes, Derralynn; Linhart, Ales; Hopkin, Robert J.; Tondel, Camilla; Warnock, David G.; Rup, Bonita; Koulinska, Irene; Rocco, Rossana; Alon, Sari; Chertkoff, Raul; Almon, Einat Brill; Sakov, Anat; Wallace, Eric Share Save
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease Hughes, Derralynn; Gonzalez, Derlis; Maegawa, Gustavo; Bernat, John A.; Holida, Myrl; Giraldo, Pilar; Atta, Mohamed G.; Chertkoff, Raul; Alon, Sari; Almon, Einat Brill; Rocco, Rossana; Goker-Alpan, Ozlem Share Save
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Wallace, Eric L.; Goker-Alpan, Ozlem; Wilcox, William R.; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Ales; Hughes, Derralynn A.; Hopkin, Robert J.; Tondel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B.; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A.; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G. Share Save
Developmental delay can precede neurologic regression in metachromatic leukodystrophy Adang, Laura A.; Groeschel, Samuel; Grzyb, Chloe; Eichler, Florian S.; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Keller, Stephanie; Poe, Michele; Bernat, John; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe; Orchard, Paul J.; Gupta, Ashish; Ljungberg, Merete; Gronborg, Sabine; Fumagalli, Francesca; Elgun, Saskia; Kehrer, Christiane; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results Hopkin, Robert J.; Ganesh, Jaya; Deegan, Patrick; Goker-Alpan, Ozlem; Bernat, John; Wilcox, William R.; Pahl, Madeleine V.; Whitley, Chester B.; Hughes, Derralynn; Nicholls, Kathleen; Cao, Liching; Chen, Michael; Shiue, Lisa H.; Bowden, Emma; Jaggumantri, Sravan; Passalacqua, Cristobal; Souberbielle, Bernard; Cockroft, Bettina M. Share Save
Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Twoyear interim results from the ongoing phase 3 BRIGHT51 openlabel extension study Bernat, John; Holida, Myrl D.; Longo, Nicola; Goker-Alpan, Ozlem; Wallace, Eric; Deegan, Patrick B.; Tondel, Camilla; Eyskens, Francois J.; Feldt-Rasmussen, Ulla; Hughes, Derralynn; Pisani, Antonio; Rocco, Rossana; Almon, Einat Brill; Alon, Sari; Chertkoff, Raul; Warnock, David G.; Waldek, Stephen; Wilcox, William R. Share Save
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Weinreb, Neal J.; Goker-Alpan, Ozlem; Kishnani, Priya S.; Longo, Nicola; Burrow, T. Andrew; Bernat, John A.; Gupta, Punita; Henderson, Nadene; Pedro, Helio; Prada, Carlos E.; Vats, Divya; Pathak, Ravi R.; Wright, Ekaterina; Ficicioglu, Can Share Save
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