Zobrazeno 1 - 10
of 1 484
pro vyhledávání: '"P. Harmatz"'
Autor:
R. Giugliani, P. Harmatz, S.A. Jones, N.J. Mendelsohn, A. Vellodi, Y. Qiu, C.J. Hendriksz, S. Vijayaraghavan, D.A.H. Whiteman, A. Pano
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 2-7 (2017)
Objectives: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effe
Externí odkaz:
https://doaj.org/article/92aa284d056b4ed48ebe7a886496a336
Autor:
P.I. Dickson, I. Kaitila, P. Harmatz, A. Mlikotic, A.H. Chen, A. Victoroff, M.B. Passage, J. Madden, S.Q. Le, D.E. Naylor
Publikováno v:
Data in Brief, Vol 5, Iss C, Pp 71-76 (2015)
Five subjects with mucopolysaccharidosis type I and symptomatic cervical spinal stenosis received intrathecal laronidase in a 4-month pilot study and/or a 12-month extension study [1]. Clinical descriptions of study subjects, nonserious adverse event
Externí odkaz:
https://doaj.org/article/c1b384809e714406844702d1889a6d09
Autor:
Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101041- (2024)
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sulfate (CS) t
Externí odkaz:
https://doaj.org/article/efb44fff9b354619a473658aafb0ccd6
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:
Paul Harmatz, Robert Wynn, Ashish Gupta, Sandhya Kharbanda, Caroline Lindemans, Rebecca Ahrens-Nicklas, Peter van Hasselt, Troy Lund, Timothy Olson, Francesca Tucci, Leonie Martin, Nathalie Boeglin, Jean Brooks, Su Syonmez, Laura Campbell, Simon Jones, Paul Orchard, Maria Ester Bernardo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100914- (2024)
Externí odkaz:
https://doaj.org/article/70e16dbba1ce45d1b98e1211c66c59e6
Autor:
Ravi Savarirayan, William Wilcox, Paul Harmatz, John Phillips, III, Lynda Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Carlos Bacino, Donald Basel, Ricki Carroll, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard Saal, Lingling Han, Andrea Low, Elena Fisheleva, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101028- (2024)
Externí odkaz:
https://doaj.org/article/848e38cda46d4c7a890843f69282c6c4
Autor:
Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Andrea Low, Sue Lawrinson, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101036- (2024)
Externí odkaz:
https://doaj.org/article/d444baf1306a40b8b82f2f3f208e1f3e
Autor:
Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Richard Rowell, Alice Huntsman Labed, Jonathan Day
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101038- (2024)
Externí odkaz:
https://doaj.org/article/974a5c00c4b44b7f8f7d001a9668a033
Autor:
Julie Hoover-Fong, Melita Irving, Carlos Bacino, Joel Charrow, Carlos Prada, Valerie Cormier-Daire, Lynda Polgreen, Paul Harmatz, Sajda Ghani, Elena Fisheleva, Andrea Low, Jonathan Day, John Phillips, III, Ravi Savarirayan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101041- (2024)
Externí odkaz:
https://doaj.org/article/f3aedeb68bbf4a27b0ecec698a216bfa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease. This analysis of data from the Hunter Outcome
Externí odkaz:
https://doaj.org/article/0f581cf4275947cc8ca13edda58177b9