檢索結果 - Catherine Breen
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A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA 由 Simon Jones, Catherine Breen, Fiona Heap, Stewart Rust, Jessica de Ruijter, Evelien Tump, Jan Pieter Marchal, Luying Pan, Yongchang Qiu, Jou-Ku Chung, Nitin Nair, Patrick Haslett, Ann Barbier, Frits A. Wijburg
出版 2016Artigo -
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Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease 由 Manisha Balwani, Catherine Breen, Gregory M. Enns, Patrick Deegan, Tomáš Honzík, Simon Jones, John P. Kane, Vĕra Malinová, Reena Sharma, Eveline O. Stock, Vassili Valayannopoulos, Ed Wraith, Jennifer M. Burg, Stephen Eckert, Eugene Schneider, Anthony G. Quinn
出版 2013Artigo -
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Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency 由 Vassili Valayannopoulos, Vĕra Malinová, Tomáš Honzík, Manisha Balwani, Catherine Breen, Patrick Deegan, Gregory M. Enns, Simon Jones, John P. Kane, Eveline O. Stock, Radhika Tripuraneni, Stephen Eckert, Eugene Schneider, Gavin Hamilton, Michael S. Middleton, Claude B. Sirlin, Bruce Kessler, Christopher Bourdon, Simeon A. Boyadjiev, Reena Sharma, Chris Twelves, Chester B. Whitley, Anthony G. Quinn
出版 2014Artigo -
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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability 由 Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang
出版 2019Artigo -
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development 由 Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga
出版 2016Artigo
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