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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
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Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy Bradbury, Allison M.; Bagel, Jessica; Swain, Gary; Miyadera, Keiko; Pesayco, Jill P.; Assenmacher, Charles-Antoine; Brisson, Becky; Hendricks, Ian; Wang, Xiao H.; Herbst, Zachary; Pyne, Nettie; Odonnell, Patricia; Shelton, Diane; Gelb, Michael; Hackett, Neil; Szabolcs, Paul; Vite, Charles H.; Escolar, Maria Share Save
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey Klopstock, Thomas; Mercimek-Andrews, Saadet; Jurecka, Agnieszka; Wood, Patricia; Cwyl, Maciej; Klucken, Angelika; Lopez, Antonio; Scalise, Roberta; Valle, Andrea; Mollet, Fatemeh; Perez-Duenas, Belen; Skowronska, Marta; Chroscinska-Krawczyk, Magdalena; Escolar, Maria Luisa; Wade, Anna; Rintell, David 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
First-in-human phase 1/2 trial of intravenous FBX-101 following hematopoietic stem cell transplantation increases GALC activity, supports brain development, and improves motor function in patients with infantile Krabbe disease: RESKUE clinical trial Escolar, Maria L.; Lugt, Mark Vander; Poe, Michele; Greco, Melissa; Werling, Keith; De Silva, Erandi; Ruiz, Juan; Szabolcs, Paul Share Save
Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial) Neuhaus, Sarah; Lewis, Travis B.; Tamburri, Paul A.; Whitley, Chester B.; Rajan, Deepa; Gallagher, Renata C.; Jones, Simon; Donald, Aimee; Escolar, Maria L.; Beckerman, Yael; Mahoney, Erin; Hatch, Daniel A.; Shaughnessy, Lee; Sondergaard, Patricia; Uspenskaya, Olga; Sevigny, Jeffrey Share Save
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Atypical Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant Nicita, Francesco; Stregapede, Fabrizia; Deodato, Federica; Pizzi, Simone; Martinelli, Simone; Pagliara, Daria; Aiello, Chiara; Cumbo, Francesca; Piemonte, Fiorella; D'Amico, Jessica; Pro, Stefano; Longo, Daniela; Genovese, Silvia; Tartaglia, Marco; Escolar, Maria L.; Bertini, Enrico; Travaglini, Lorena Share Save
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Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II Bakardjiev, Anna; Harmatz, Paul; Burton, Barbara; Escolar, Maria; Muenzer, Joseph; Jones, Simon; Chen, Charlene; Caprihan, Rupa; Bhalla, Akhil; Daryani, Vinay; Harris, Jeffrey; Zhu, Yuda; Ho, Carole; Troyer, Matthew Share Save
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