Zobrazeno 1 - 10
of 413
pro vyhledávání: '"Paul, Harmatz"'
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
Autor:
Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100987- (2023)
Objective: This study assessed growth patterns in patients with mucopolysaccharidosis (MPS) VII before enzyme replacement therapy. Methods: Height, weight, and body mass index (BMI) measurements and Z-scores from patients from three clinical studies
Externí odkaz:
https://doaj.org/article/68199889bc9745e98000b49f745e7638
Autor:
Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression
Externí odkaz:
https://doaj.org/article/26b2ae6f02f64042b5ae5b03889d8f10
Publikováno v:
Pediatrics and Neonatology, Vol 64, Iss , Pp S10-S17 (2023)
The mucopolysaccharidoses (MPSs) are a subset of lysosomal storage diseases caused by deficiencies in the enzymes required to metabolize glycosaminoglycans (GAGs), a group of extracellular heteropolysaccharides that play diverse roles in human physio
Externí odkaz:
https://doaj.org/article/d9c646c49ac449c5afb80867b4df49f9
Autor:
Iskren Menkovic, James Beasley, Haoyue Zhang, Billie Lianoglou, Jingwei Yu, Ashlee Stiles, Paul Harmatz, Sarah Young
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100037- (2023)
Externí odkaz:
https://doaj.org/article/1146f49d78524f3aad5ac13a3180b0cb