Search Results - "Istaiti, Majdolen"

High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy by Istaiti, Majdolen, Frydman, Dafna, Dinur, Tama, Szer, Jeff, Revel-Vilk, Shoshana, Zimran, Ari

“…Ambroxol hydrochloride (ABX), an oral mucolytic drug available over the counter for many years, acts as a pharmacological chaperone for mutant…”
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Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations by Dinur, Tama, Grittner, Ulrike, Revel-Vilk, Shoshana, Becker-Cohen, Michal, Istaiti, Majdolen, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari

“…For three decades, enzyme replacement therapy (ERT), and more recently, substrate reduction therapy, have been the standard-of-care for type I Gaucher disease…”
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? by Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana

“…For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells…”
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Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease by Dinur, Tama, Istaiti, Majdolen, Frydman, Dafna, Becker-Cohen, Michal, Szer, Jeff, Zimran, Ari, Revel-Vilk, Shoshana

“…Abstract Background It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and…”
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Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease by Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Skrahina, Volha, Zimran, Ari, Revel-Vilk, Shoshana

“…Glucosylsphingosine (lyso-Gb1), the deacylated form of glucocerebroside, was shown to be the most specific and sensitive biomarker for diagnosing Gaucher…”
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GBA1 -Associated Parkinson's Disease Is a Distinct Entity by Skrahin, Aliaksandr, Horowitz, Mia, Istaiti, Majdolen, Skrahina, Volha, Lukas, Jan, Yahalom, Gilad, Cohen, Mikhal E, Revel-Vilk, Shoshana, Goker-Alpan, Ozlem, Becker-Cohen, Michal, Hassin-Baer, Sharon, Svenningsson, Per, Rolfs, Arndt, Zimran, Ari

“…-associated Parkinson's disease ( -PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the…”
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Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit by Istaiti, Majdolen J., Dinur, Tama, Revel-Vilk, Shoshana, Zimran, Ari

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Venglustat in GBA1-related Parkinson's disease by Zimran, Ari, Revel-Vilk, Shoshana, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt

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Cancer Risk in Patients with Gaucher Disease Using Real-World Data by Revel-Vilk, Shoshana, Zimran, Ari, Istaiti, Majdolen, Manor, Orly, Shalev, Varda, Azani, Litat, Chodick, Gabriel, Paltiel, Ora

“…Gaucher disease (GD), a rare autosomal recessive disorder, is characterized by the deficiency of the lysosomal enzyme β-glucocerebrosidase, leading to the…”
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Ambroxol therapy for patients with Gaucher disease type 1, either poor responders to enzyme replacement therapy/substrate reduction therapy (ERT/SRT) or untreated by Istaiti, Majdolen J., Becker-Cohen, Michal, Frydman, Dafna, Dinur, Tama, Revel-Vilk, Shoshana, Zimran, Ari

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A collaborative approach to address the unmet needs of patients with neuronopathic Gaucher disease type 2 and type 3, the creation of GARDIAN, a patient-led, patient-owned global registry by Collin-Histed, Tanya, Jaffe, Dena, Revel-Vilk, Shoshana, Istaiti, Majdolen, Stoodley, Madeline, Davies, Elin Haf

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An 18-month report on the safety and efficacy of rapid intravenous velaglucerase alfa infusions in naïve patients with Gaucher disease by Becker-Cohen, Michal, Revel-Vilk, Shoshana, Frydman, Dafna, Istaiti, Majdolen, Dinur, Tama, Cozma, Claudia, Zimran, Ari

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Not All Patients with Mild Phenotype of Gaucher Disease (GD) Need Disease Specific Treatment As Reflected By Patients Reported Outcomes Measures by Revel-Vilk, Shoshana, Dinur, Tama, Istaiti, Majdolen, Frydman, Dafna, Becker-Cohen, Michal, Zimran, Ari

“…The introduction of disease specific therapy for patients with type 1 Gaucher disease (GD) was a revolution in the management of patients, but not without…”
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Eliglustat in patients with Gaucher disease previously treated with enzyme replacement therapy: Real-life experience from Israel by Istaiti, Majdolen, Ruhrman-Shahar, Noa, Cohen, Ian J., Hershkovitz, Tova, Becker-Cohen, Michal, Dinur, Tama, Revel-Vilk, Shoshana, Zimran, Ari

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Contribution of lyso-Gb1 to treatment decisions in patients with Gaucher disease by Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen Joleen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana

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Lyso-Gb1 as a biomarker of the real-world situation in Gaucher disease: Comparative data from the Gaucher Outcome Survey (GOS) in ERT-treated and untreated patients by Zimran, Ari, Revel-Vilk, Shoshana, Dinur, Tama, Istaiti, Majdolen Joleen, Botha, Jaco, Gill, Aidan, Giraldo, Pilar, Deegan, Patrick B., Dahl, Stephan vom

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Gaucher disease specific patients reported outcome measures: A mobile phone survey by Dinur, Tama, Istaiti, Majdolen, Frydman, Dafna, Beckher-Cohen, Michal, Zimran, Ari, Revel-Vilk, Shoshana

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Lyso-Gb1 as a biomarker of treatment outcomes in Gaucher disease: An evaluation of data from the Gaucher Outcome Survey (GOS) registry by Revel-Vilk, Shoshana, Dinur, Tama, Istaiti, Majdolen, Cozma, Claudia, Rolfs, Arndt, Botha, Jaco, Zimran, Ari

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Impact of long-term enzyme replacement therapy on Lyso-Gb1 in patients with Gaucher disease: Comparison between 3 enzymatic formulations by Dinur, Tama, Grittner, Ulrike, Becker-Cohen, Michal, Istaiti, Majdolen, Cozma, Claudia, Rolfs, Arndt, Revel-Vilk, Shoshana, Zimran, Ari

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Markers of inflammation and alpha degranulation defect of platelets in patients with Gaucher disease by Revel-Vilk, Shoshana, Naamad, Mira, Frydman, Dafna, Freund, Michael R., Dinur, Tama, Istaiti, Majdolen, Becker-Cohen, Michal, Broide, Eti, Zimran, Ari

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