Zobrazeno 1 - 10
of 470
pro vyhledávání: '"Ari Zimran"'
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:
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
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 11, p 3325 (2024)
Background/Objectives: Gaucher Disease type 1 (GD1) is a recessively inherited lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. Enzyme replacement therapy (ERT) has become the standard of care for patients with G
Externí odkaz:
https://doaj.org/article/789787e2e70a4b2e846e77ea2fea14e0
Autor:
Patrick Deegan, Heather Lau, Deborah Elstein, Diego Fernandez-Sasso, Pilar Giraldo, Derralynn Hughes, Ari Zimran, Majdolen Istaiti, Noga Gadir, Jaco Botha, Shoshana Revel-Vilk
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 10, p 2782 (2024)
Background: Gaucher disease (GD) is a rare, autosomal, recessive condition characterized by hepatosplenomegaly, thrombocytopenia, anemia, and bone abnormalities, often requiring life-long treatment. Velaglucerase alfa has improved hematologic and vis
Externí odkaz:
https://doaj.org/article/52e72b7018164598a1033186e4371156
Autor:
Shoshana Revel-Vilk, Ari Zimran, Majdolen Istaiti, Liat Azani, Varda Shalev, Gabriel Chodick, Orly Manor, Ora Paltiel
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 24, p 7707 (2023)
The association between GD and cancer has been uncertain due to ascertainment bias in previously published studies. We analyzed cancer incidence using the Maccabi Healthcare Service (MHS) electronic health records among 264 patients with GD compared
Externí odkaz:
https://doaj.org/article/b7dda7514cb84789846d734e5e9d93a1
Autor:
Shoshana Revel-Vilk, Royston Mansfield, Neta Feder-Krengel, Noya Machtiger-Azoulay, David Kuter, Jeff Szer, Hanna Rosenbaum, David Cavalcanti Ferreira, Noa Ruhrman-Shahar, Michael Wajnrajch, Ari Zimran
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 18, p 5913 (2023)
Taliglucerase alfa is an enzyme replacement therapy approved for Gaucher disease. We assessed the duration/compliance/safety of such home infusions in commercial use in four countries where home infusion programs are available. The treatment duration
Externí odkaz:
https://doaj.org/article/d65187f752bd498bad5e86cd887416ce
Autor:
Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs
Publikováno v:
Diagnostics, Vol 13, Iss 17, p 2812 (2023)
Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1)
Externí odkaz:
https://doaj.org/article/8bc45cefc4f4454f8ba12c3c3714514a
Autor:
Ido Azuri, Ameer Wattad, Keren Peri-Hanania, Tamar Kashti, Ronnie Rosen, Yaron Caspi, Majdolen Istaiti, Makram Wattad, Yaakov Applbaum, Ari Zimran, Shoshana Revel-Vilk, Yonina C. Eldar
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 16, p 5361 (2023)
The enlargement of the liver and spleen (hepatosplenomegaly) is a common manifestation of Gaucher disease (GD). An accurate estimation of the liver and spleen volumes in patients with GD, using imaging tools such as magnetic resonance imaging (MRI),
Externí odkaz:
https://doaj.org/article/84b84090ed554bddbd8eb05c80b5e7ed
Autor:
Ariel Grass, Eyal Riemer, Ari Zimran, Shoshana Revel-Vilk, Andres Freundlich, Ehud Lebel, Alexander Ioscovich
Publikováno v:
Life, Vol 13, Iss 8, p 1716 (2023)
Objectives: Gaucher disease’s (GD) pathophysiology generates anesthetic concerns in total hip joint arthroplasty (THA), and due to its rareness, data on perioperative risks are scarce. This 22-year study at a large reference center addresses anesth
Externí odkaz:
https://doaj.org/article/52943703ef8946e4b26860217e647390
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