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An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Rajan, Deepa S.; Jones, Simon A.; van den Hout, Johanna M. P.; Mitchell, John J.; Bhalla, Akhil; Engmann, Natalie J.; Zubizarreta, Imanol; Dong, Wei; Model, Fabian; Watts, Ryan J.; Troyer, Matthew D.; Chin, Peter S.; Ho, Carole Share Save
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Treatment with UX111 gene therapy rapidly reduced heparansulfate (HS) exposure in cerebrospinalfluid (CSF) and improvedlong-term cognitive function in children withmucopolysaccharidosis type IIIA (MPS IIIA) Lau, Heather A.; Patra, Kaushik; Wolf, Melissa; Smith, Nicholas J. C.; Couce, Maria L.; Rajan, Deepa; Truxal, Kristen; Castro Lopez, Maria Jose De; Fuller, Maria; Monteagudo-Vilavedra, Eines; Dunia Dougherty-De Miguel, Lucia; Riera, Mireia Del Toro; Flanigan, Kevin M. Share Save
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Two hundred and fifty cases of Gaucher disease type 2 : A novel system of clinical categorization and evidence of genotype: phenotype correlation Donalda, Aimee; Brothwellb, Shona; Ehrstedtc, Christoffer; Fernandez-Fructuosod, Jose Ramon; Leguinae, Domingo Gonzalez-Lamuno; Garciaf, Jose Maria Lloreda; Mignotg, Cyril; Munozh, Beatriz; Nursei, James H.; O'Sullivanj, Siobhan; Perssonk, Anna Nielsen; Raimanl, Julian A.; Rajanm, Deepa; Uberosn, Jose; Joneso, Simon; Churchp, Heather J. Share Save
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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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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael Share Save
Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Rajan, Deepa; Jones, Simon A.; van den Hout, Hannerieke . J. P.; Mitchell, John; Meirelles, Katia; Engmann, Natalie; Scheller, Adam; Caprihan, Rupa; Bhalla, Akhil; Hung, Tony; Nachtigall, Jason; Zubizarreta, Imanol; Lu, Sam; Zhu, Yuda; Chin, Peter; Troyer, Matt D.; Ho, Carole; Dong, Wei; Model, Fabian Share Save
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Somatic outcomes in a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II Burton, Barbara; Muenzer, Joseph; Harmatz, Paul; Rajan, Deepa; Jones, Simon A.; van den Hout, Hannerieke J. P.; Mitchell, John; Meirelles, Katia; Engmann, Natalie; Scheller, Adam; Caprihan, Rupa; Bhalla, Akhil; Hung, Tony; Nachtigall, Jason; Zubizarreta, Imanol; Lu, Sam; Zhu, Yuda; Chin, Peter; Troyer, Matt D.; Ho, Carole; Dong, Wei; Model, Fabian; Bakardjiev, Anna I. Share Save
CAMPSIITETM phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II) Harmatz, Paul; Ficicioglu, Can; Giugliani, Roberto; Rajan, Deepa; Hagood, Joseph; Fiscella, Michele; Yang, Lin; Gilmor, Michelle; Cho, Yoonjin; Mulatya, Caroline; Phillips, Dawn; Boulos, Nidal; Falabella, Paulo; Pisani, Laura Share Save
Molecular and Phenotypic Characterization of the RORB-Related Disorder Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan Share Save
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration Fortuna, Tyler R. R.; Kour, Sukhleen; Chimata, Anuradha Venkatakrishnan; Muinos-Buehl, Anixa; Anderson, Eric N. N.; Nelson IV, Charlie H. H.; Ward, Caroline; Chauhan, Om; O'Brien, Casey; Rajasundaram, Dhivyaa; Rajan, Deepa S. S.; Wirth, Brunhilde; Singh, Amit; Pandey, Udai Bhan Share Save
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II Muenzer, Joseph; Harmatz, Paul; Burton, Barbara K.; Rajan, Deepa; Jones, Simon A.; Chessler, Steven D.; Engmann, Natalie; Scheller, Adam; Chen, Charlene; Caprihan, Rupa; Bhalla, Akhil; Hung, Tony; Nachtigall, Jason; Zubizarreta, Imanol; Kay, Angela; Costanzo, Simona; Harris, Jeffrey M.; Zhu, Yuda; Chin, Peter; Troyer, Matthew D.; Ho, Carole; Bakardjiev, Anna I. Share Save
RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in human study Harmatz, Paul; Ficicioglu, Can H.; Giugliani, Roberto; Rajan, Deepa; Hagood, Joseph; Fiscella, Michele; Yang, Lin; Gilmor, Michelle; Cho, Yoonjin; Phillips, Dawn; Falabella, Paulo Share Save
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