Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Tomo Sawada"'
Autor:
Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea
Publikováno v:
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
Summary Background Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy with recombinant human acid α-glucosidase, alglucosidase alfa,
Autor:
Thierry Levade, David R. Hampson, Matthew C. Micsenyi, Tomo Sawada, Jakub Sikora, Josefina Casas, Pauline Le Faouder, Christopher K. Dunn, Aude Dupuy, Mustafa Kamani, Shaalee Dworski, E. Ellen Jones, Justine Bertrand-Michel, Richard R. Drake, Ingrid Cong Yang Xuan, Jeffrey A. Medin, Gemma Fabriàs, Steven U. Walkley
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
arber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffdaff7d2fed57431848b7b1d2396f25
http://hdl.handle.net/10261/177269
http://hdl.handle.net/10261/177269
Autor:
Peter Heimann, Thomas Dierks, Markus Damme, Steven U. Walkley, Tomo Sawada, Theresa Ortkras, Björn Kowalewski, Renate Lüllmann-Rauch
Publikováno v:
Human molecular genetics. 24(7)
Deficiency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). Here we
Autor:
Motomichi Kosuga, Norio Sakai, Chiho Kadono, Ken Tabuchi, Takashi Hamazaki, Yasuyuki Suzuki, Torayuki Okuyama, Koji Kato, Tomo Sawada, Shunichi Kato, Michiko Shinpo, Hiromasa Yabe, Mika Ishige, Satoshi Kudo, Akemi Tanaka, Hideo Mugishima
Publikováno v:
Molecular Genetics and Metabolism. 114:S111-S112
Autor:
Josefina Casas, Christopher K. Dunn, Aude Dupuy, Pauline Le Faouder, Shaalee Dworski, Ingrid Xuan, Tomo Sawada, Thierry Levade, David R. Hampson, Jeffrey A. Medin, Gemma Fabriàs, Richard R. Drake, Matthew C. Micsenyi, Elizabeth E. Jones, Stéphane Carpentier, Justine Bertrand-Michel, Steven U. Walkley, Jakub Sikora, Mustafa Kamani
Publikováno v:
Molecular Genetics and Metabolism. 114:S38-S39
Background: Fabry disease (FD) is an innate error of glycosphingolipid catabolism due to a genetic defect in the gene which codifies for alphagalactosidase A (α-Gal A) production (GLA gene). Mutations affecting the GLA gene result in deficiency of t
Autor:
Koji Kato, Hiromitsu Takakura, Norio Sakai, Takanobu Otomo, Torayuki Okuyama, Akemi Tanaka, Shunichi Kato, Toju Tanaka, Toshihiro Ohura, Yasuyuki Suzuki, Nobuhiro Suzuki, Ryoji Kobayashi, Tomo Sawada, Hideo Mugishima, Toya Ohashi, Souichi Adachi, Mika Ishige-Wada, Hiromasa Yabe
Publikováno v:
Molecular genetics and metabolism. 107(3)
Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients
Autor:
Bendicht Wermuth, Vicente Rubio, Fumio Endo, Sanae Numata, Jason Pinner, Yoshiro Koda, Yoshiyuki Okano, Edwin P. Kirk, Makoto Yoshino, José Antonio Arranz, Kenji Ihara, Mendel Tuchman, Han Wook Yoo, Nicholas Ah Mew, Tomo Sawada, Toshinobu Matsuura
Publikováno v:
Journal of human genetics. 55(1)
We performed haplotype analysis using nine single nucleotide polymorphisms in the ornithine transcarbamylase gene to explore the ancestral origins of three mutations associated with late-onset phenotype in male patients: p.R40H, p.R277W and p.Y55D. O
Publikováno v:
Molecular Genetics and Metabolism. 111:S52
Autor:
Steven U. Walkley, David R. Hampson, Matthew C. Micsenyi, Jakub Sikora, Jeffrey A. Medin, Tomo Sawada, Shaalee Dworski
Publikováno v:
Molecular Genetics and Metabolism. 111:S93