Zobrazeno 1 - 10
of 186
pro vyhledávání: '"Joseph Muenzer"'
Autor:
Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic dis
Externí odkaz:
https://doaj.org/article/05dd1c85770a46b4be285c87c0320601
Autor:
Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)
Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisy
Externí odkaz:
https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902
Autor:
Barbara Burton, Can Ficicioglu, Helio Pedro, Ravi Pathak, Ian Robinson, Ekaterina Wright, Joseph Muenzer
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100161- (2023)
Externí odkaz:
https://doaj.org/article/68a37484062542a593963d5369d1189e
Autor:
Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) idursulfase can stabi
Externí odkaz:
https://doaj.org/article/cb2d320f4d274cb7ab2b18683b97cf09
Autor:
Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacologica
Externí odkaz:
https://doaj.org/article/5477d878e2a34a8fbe566add29f16e5a
Autor:
Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100788- (2021)
The impact of the COVID-19 pandemic on the standards of care of patients with lysosomal storage diseases and the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemi
Externí odkaz:
https://doaj.org/article/3d585c7f90ab439e9d6f340a3553018c
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation o
Externí odkaz:
https://doaj.org/article/07788539a8b74b2fa1444bee0867e560
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressi
Externí odkaz:
https://doaj.org/article/4b4cdd98c75840e4a9c116d9983d5417
Publikováno v:
Engineering Reports, Vol 2, Iss 12, Pp n/a-n/a (2020)
Abstract Recombinant iduronate‐2‐sulfatase (idursulfase) is available for the treatment of mucopolysaccharidosis II (MPS II). The effectiveness of this glycoprotein may depend on post‐translational modifications such as glycosylation and sialyl
Externí odkaz:
https://doaj.org/article/94cf6ef4a04040e0a7a4fe6f4be981fa
Autor:
Haiyan Fu, Kim Zaraspe, Naoko Murakami, Aaron S. Meadows, Ricardo J. Pineda, Douglas M. McCarty, Joseph Muenzer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 327-340 (2018)
No treatment is available to address the neurological need and reversibility of MPS II. We developed a scAAV9-hIDS vector to deliver the human iduronate-2-sulfatase gene and test it in mouse model. We treated MPS II mice at different disease stages w
Externí odkaz:
https://doaj.org/article/b6032df5c230489cb9ac22b8477098f0