Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Özlem Göker-Alpan"'
Autor:
Deborah Elstein, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Diego Fernandez-Sasso, Pilar Giraldo, Özlem Göker-Alpan, Derralynn Hughes, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Ida Vanessa D. Schwartz, Majdolen Istaiti, Jaco Botha, Noga Gadir, Jörn Schenk, Ari Zimran
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 12, p 3588 (2024)
Background: Long-term patient registries are important for evaluating treatment outcomes in patients with rare diseases, and can provide insights into natural disease history and progression in real-world clinical practice. Initiated in 2010, the Gau
Externí odkaz:
https://doaj.org/article/b1cc50b6372943b68cf134969c40c18d
Autor:
Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated conversations about trea
Externí odkaz:
https://doaj.org/article/8a9a96490a25457892be79016fa556e9
Autor:
Derralynn A. Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 12, p 4017 (2023)
Thank you for allowing us the opportunity to respond to the commentary from Mistry and colleagues (Comment: The two substrate reduction therapies for type 1 Gaucher disease are not equivalent) [...]
Externí odkaz:
https://doaj.org/article/3093674d19c54569919d46f73b789fa9
Autor:
Derralynn A. Hughes, Patrick Deegan, Pilar Giraldo, Özlem Göker-Alpan, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Maurizio Scarpa, Jaco Botha, Noga Gadir, Ari Zimran
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 17, p 5158 (2022)
Switching between enzyme replacement therapies (ERT) and substrate reduction therapies (SRT) in patients with type 1 Gaucher disease (GD1) is not uncommon; however, the reasons for switchng treatments have not been explored in detail. Data from the G
Externí odkaz:
https://doaj.org/article/9abc3e430bf04501a12e808803fd874b
Autor:
Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Externí odkaz:
https://doaj.org/article/e2b36f5e15fe453fa8d63c1faf004242
Autor:
Priya S. Kishnani, Walla Al-Hertani, Manisha Balwani, Özlem Göker-Alpan, Heather A. Lau, Melissa Wasserstein, Neal J. Weinreb, Gregory Grabowski
Publikováno v:
Molecular genetics and metabolism. 135(2)
Several guidelines are available for identification and management of patients with Gaucher disease, but the most recent guideline was published in 2013. Since then, there have been significant advances in newborn screening, phenotypic characterizati
Autor:
Aliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, Volha Skrahina, Jan Lukas, Gilad Yahalom, Mikhal E. Cohen, Shoshana Revel-Vilk, Ozlem Goker-Alpan, Michal Becker-Cohen, Sharon Hassin-Baer, Per Svenningsson, Arndt Rolfs, Ari Zimran
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 13, p 7102 (2024)
GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinning
Externí odkaz:
https://doaj.org/article/e3979c57f9aa45eda829213364404fad
Autor:
Margarita M. Ivanova, Julia Dao, Neala Loynab, Sohailla Noor, Neil Kasaci, Andrew Friedman, Ozlem Goker-Alpan
Publikováno v:
Cells, Vol 13, Iss 8, p 716 (2024)
Background: Gaucher disease (GD) is caused by glucocerebrosidase (GCase) enzyme deficiency, leading to glycosylceramide (Gb-1) and glucosylsphingosine (Lyso-Gb-1) accumulation. The pathological hallmark for GD is an accumulation of large macrophages
Externí odkaz:
https://doaj.org/article/29e6db55d6a34a6ca779dba5aa3e06d8
Publikováno v:
Cells, Vol 12, Iss 16, p 2102 (2023)
Fabry disease (FD) is a lysosomal disorder caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide (Gb-3) and its metabolite globotriaosylsphingosine (Lyso-Gb-3). Cardiovascular complications and hypertrophic c
Externí odkaz:
https://doaj.org/article/6581602e81d745d0b37861167c52f2df
Autor:
John Bernat, Myrl Holida, Nicola Longo, Ozlem Goker-Alpan, Eric Wallace, Patrick Deegan, Camilla Tondel, Francois Eyskens, Ulla Feldt-Rasmussen, Derralynn Hughes, Antonio Pisani, Ales Linhart, Rossana Rocco, Einat Almon, Sari Alon, Raul Chertkoff, David Warnock, Stephen Waldek, William Wilcox
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100016- (2023)
Externí odkaz:
https://doaj.org/article/8bbaafcf70e2430d905395dd7c90e62a