Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.

Autor: Becker-Cohen M; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel., Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Frydman D; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel., Dinur T; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel., Tiomkin M; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel., Istaiti M; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel., Arbel N; Medison Pharma, Petah Tikva, Israel., Bauer P; Centogene AG, Rostock, Germany., Cozma C; Centogene AG, Rostock, Germany., Rolfs A; Department of Neurology and Psychiatry, Medical Faculty, University of Rostock, Rostock, Germany.; Arcensus GmbH, Rostock, Germany., Szer J; Peter MacCallum Cancer Centre, Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia., Zimran A; Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Publikováno v: Internal medicine journal [Intern Med J] 2024 Mar; Vol. 54 (3), pp. 398-403. Date of Electronic Publication: 2023 Jul 26.

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Autor: Curado F; CENTOGENE GmbH, 18055 Rostock, Germany., Rösner S; CENTOGENE GmbH, 18055 Rostock, Germany., Zielke S; CENTOGENE GmbH, 18055 Rostock, Germany., Westphal G; CENTOGENE GmbH, 18055 Rostock, Germany., Grittner U; Berlin Institute of Health, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Biometry and Clinical Epidemiology, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Skrahina V; Rhythm Pharmaceuticals Inc., 20095 Hamburg, Germany., Alasel M; CENTOGENE GmbH, 18055 Rostock, Germany., Malik AM; CENTOGENE GmbH, 18055 Rostock, Germany., Beetz C; CENTOGENE GmbH, 18055 Rostock, Germany., Böttcher T; CENTOGENE GmbH, 18055 Rostock, Germany., Barel G; CENTOGENE GmbH, 18055 Rostock, Germany., Sah AP; CENTOGENE GmbH, 18055 Rostock, Germany., Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Anjum N; The Children's Hospital and University of Child Health Sciences, Lahore 54600, Pakistan., Ichraf Q; Children Hospital's Rabat, Neuropediatric-Metabolic, Rabat 6527, Morocco., Kriouile Y; Children Hospital's Rabat, Neuropediatric-Metabolic, Rabat 6527, Morocco., Hadipour Z; Soodbakhash Poly Clinic, Atiyeh Hospital, Tehran 1416753955, Iran.; Medical Genetics Department, Pars Research Center & Hospital, Tehran 1416753955, Iran., Hadipour F; Soodbakhash Poly Clinic, Atiyeh Hospital, Tehran 1416753955, Iran.; Medical Genetics Department, Pars Research Center & Hospital, Tehran 1416753955, Iran., Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112002, Israel., Cozma C; CENTOGENE GmbH, 18055 Rostock, Germany., Hartkamp J; CENTOGENE GmbH, 18055 Rostock, Germany., Cheema H; The Children's Hospital and University of Child Health Sciences, Lahore 54600, Pakistan., Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112002, Israel., Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Medical Faculty, University of Rostock, 18057 Rostock, Germany., Rolfs A; Medical Faculty, University of Rostock, 18057 Rostock, Germany.; Agyany Pharmaceutics Ltd., Jerusalem 9103102, Israel.; RCV Rare Disease GmbH, 10115 Berlin, Germany.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Aug 30; Vol. 13 (17). Date of Electronic Publication: 2023 Aug 30.

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.

Autor: Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Bauer P; Centogene GmbH, 18055 Rostock, Germany., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Cozma C; Centogene GmbH, 18055 Rostock, Germany., Becker-Cohen M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Istaiti M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Rolfs A; Centogene GmbH, 18055 Rostock, Germany.; Medical Faculty, University of Rostock, 18051 Rostock, Germany.; Arcensus GmbH, 18055 Rostock, Germany., Skrahina V; Centogene GmbH, 18055 Rostock, Germany.; Arcensus GmbH, 18055 Rostock, Germany., Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112002, Israel., Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112002, Israel.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 15; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 15.

A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk.

Autor: Becker-Cohen M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel., Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel., Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Tiomkin M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Cozma C; Centogene GmbH, 18055 Rostock, Germany., Rolfs A; Centogene GmbH, 18055 Rostock, Germany.; Medical Faculty, University of Rostock, 18051 Rostock, Germany.; Arcensus GmbH, 18055 Rostock, Germany., Arkadir D; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel.; Department of Neurology, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 9124001, Israel., Shulman E; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Manor O; Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel., Paltiel O; Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel., Yahalom G; Department of Neurology, Shaare Zedek Medical Center, Jerusalem 9103102, Israel., Berg D; Department of Neurology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany., Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 13; Vol. 23 (20). Date of Electronic Publication: 2022 Oct 13.

Platelet Activation and Reactivity in a Large Cohort of Patients with Gaucher Disease.

Autor: Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Naamad M; Flow Cytometry Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Frydman D; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Freund MR; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Istaiti M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Becker-Cohen M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Falk R; Flow Cytometry Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Broide E; Flow Cytometry Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Michelson AD; Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, United States., Frelinger AL 3rd; Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, United States., Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Publikováno v: Thrombosis and haemostasis [Thromb Haemost] 2022 Jun; Vol. 122 (6), pp. 951-960. Date of Electronic Publication: 2021 Nov 05.