Torthaí cuardaigh - Shoshana Revel‐Vilk

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  1. 1
    Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

    Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review de réir Shoshana Revel‐Vilk, Maria Fuller, Ari Zimran

    Foilsithe / Cruthaithe 2020
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  2. 2
    How we manage Gaucher Disease in the era of choices

    How we manage Gaucher Disease in the era of choices de réir Shoshana Revel‐Vilk, Jeff Szer, Atul Mehta, Ari Zimran

    Foilsithe / Cruthaithe 2018
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  3. 3
    Prothrombotic conditions in an unselected cohort of children with venous thromboembolic disease

    Prothrombotic conditions in an unselected cohort of children with venous thromboembolic disease de réir Shoshana Revel‐Vilk, Anthony K.C. Chan, Mary Bauman, Patricia Massicotte

    Foilsithe / Cruthaithe 2003
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  4. 4
    A Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy

    A Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replaceme... de réir Noa Hurvitz, Tama Dinur, Shoshana Revel‐Vilk, Samuel Agus, Marc Berg, Ari Zimran, Yaron Ilan

    Foilsithe / Cruthaithe 2024
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  5. 5
    At what age can human oocytes be obtained?

    At what age can human oocytes be obtained? de réir Ariel Revel, Shoshana Revel‐Vilk, Einat Aizenman, Anat Porat‐Katz, Anat Safran, Assaf Ben‐Meir, Michael Weintraub, Michal Shapira, Hanna Achache, Neri Laufer

    Foilsithe / Cruthaithe 2008
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  6. 6
    IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach

    IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach de réir Polina Stepensky, Michael Weintraub, A. Yanir, Shoshana Revel‐Vilk, Frank Krux, Kirsten Huck, René Martin Linka, Avraham Shaag, Orly Elpeleg, Arndt Borkhardt, Igor Resnick

    Foilsithe / Cruthaithe 2010
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  7. 7
    Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

    Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease de réir Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Aya Abramov, Ari Zimran, Shoshana Revel‐Vilk

    Foilsithe / Cruthaithe 2019
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  8. 8
    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? de réir Tama Dinur, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius‐Ionuţ Iuraşcu, Michal Becker‐Cohen, Majdolen Istaiti, Arndt Rolfs, Ari Zimran, Shoshana Revel‐Vilk

    Foilsithe / Cruthaithe 2022
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  9. 9
    Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

    Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1 de réir Andrea Dardis, Helen Michelakakis, Paula Rozenfeld, Ksenija Fumić, Jasenka Wagner, Eleonora Pavan, Maria Fuller, Shoshana Revel‐Vilk, Derralynn Hughes, Timothy M. Cox, Johannes M. F. G. Aerts

    Foilsithe / Cruthaithe 2022
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  10. 10
    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys de réir Shoshana Revel‐Vilk, Uma Ramaswami, Guillem Pintos‐Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Özlem Göker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha

    Foilsithe / Cruthaithe 2025
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  11. 11
    Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study

    Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study de réir Shoshana Revel‐Vilk, Royston Mansfield, Neta Feder-Krengel, Noya Machtiger-Azoulay, David J. Kuter, Jeff Szer, Hanna Rosenbaum, David Cavalcanti Ferreira, Noa Ruhrman‐Shahar, Michael P. Wajnrajch, Ari Zimran

    Foilsithe / Cruthaithe 2023
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  12. 12
    GBA1-Associated Parkinson’s Disease Is a Distinct Entity

    GBA1-Associated Parkinson’s Disease Is a Distinct Entity de réir Aliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, Volha Skrahina, Jan Lukáš, Gilad Yahalom, Mikhal E. Cohen, Shoshana Revel‐Vilk, Özlem Göker-Alpan, Michal Becker‐Cohen, Sharon Hassin‐Baer, Per Svenningsson, Arndt Rolfs, Ari Zimran

    Foilsithe / Cruthaithe 2024
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  13. 13
    Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia

    Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia de réir Anja J. Gerrits, Emily Leven, Andrew L. Frelinger, Sophie L. Brigstocke, Michelle A. Berny‐Lang, W. Beau Mitchell, Shoshana Revel‐Vilk, Hannah Tamary, Sabrina L. Carmichael, Marc R. Barnard, Alan D. Michelson, James B. Bussel

    Foilsithe / Cruthaithe 2015
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  14. 14
    Consensus‐based clinical recommendations and research priorities for anticoagulant thromboprophylaxis in children hospitalized for COVID‐19–related illness

    Consensus‐based clinical recommendations and research priorities for anticoagulant thromboprophylaxis in children hospitalized for COVID‐19–related illness de réir Neil A. Goldenberg, Anthony A. Sochet, Manuela Albisetti, Tina Biss, Mariana Bonduel, Julie Jaffray, Graeme MacLaren, Paul Monagle, Sarah H. O’Brien, Leslie Raffini, Shoshana Revel‐Vilk, Nongnuch Sirachainan, Suzan Williams, Ayesha Zia, Christoph Male

    Foilsithe / Cruthaithe 2020
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  15. 15
    Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

    Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry de réir 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 Döederlein Schwartz, Majdolen Istaiti, Jaco Botha, Noga Gadir, Jörn Schenk, Ari Zimran

    Foilsithe / Cruthaithe 2024
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  16. 16
    Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

    Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans de réir Cyrill Schipp, Schafiq Nabhani, K. Bienemann, Natalia Simanovsky, Shlomit Kfir-erenfeld, Nathalie Assayag-Asherie, Prasad T. Oommen, Shoshana Revel‐Vilk, Andrea Hönscheid, Michael Gombert, Sebastian Ginzel, Daniel W. Schafer, Hans-Juergen Laws, Eitan Yefenof, Bernhard Fleckenstein, Arndt Borkhardt, Polina Stepensky, Ute Fischer

    Foilsithe / Cruthaithe 2016
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  17. 17
    Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

    Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population de réir Orna Steinberg‐Shemer, Tracie Goldberg, Joanne Yacobovich, Carina Levin, Ariel Koren, Shoshana Revel‐Vilk, Tal Ben‐Ami, Amir A. Kuperman, Vered Shkalim Zemer, Amos Toren, Joseph Kapelushnik, Ayelet Ben‐Barak, Hagit Miskin, Tanya Krasnov, Sharon Noy‐Lotan, Orly Dgany, Hannah Tamary

    Foilsithe / Cruthaithe 2019
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  18. 18
    Upgrading the evidence for the use of ambroxol in Gaucher disease and <scp>GBA</scp> related Parkinson: Investigator initiated registry based on real life data

    Upgrading the evidence for the use of ambroxol in Gaucher disease and <scp>GBA</scp> related Parkinson: Investigator initiated registry based on real life data de réir Majdolen Istaiti, Shoshana Revel‐Vilk, Michal Becker‐Cohen, Tama Dinur, Uma Ramaswami, Daniela Castillo‐García, Magdalena Cerón‐Rodríguez, Alicia Chan, Predrag Rodić, Radka Tincheva, Walla Al‐Hertani, Beom Hee Lee, Chia‐Feng Yang, Beata Kieć‐Wilk, Agata Fiumara, Bárbara Rubio, Ari Zimran

    Foilsithe / Cruthaithe 2021
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  19. 19
    Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

    Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency de réir Polina Stepensky, Anne Rensing‐Ehl, Ruth Gather, Shoshana Revel‐Vilk, Ute Fischer, Schafiq Nabhani, Fabian Beier, Tim H. Brümmendorf, Sebastian Fuchs, Simon Zenke, Elke Firat, Vered Molho Pessach, Arndt Borkhardt, Mirzokhid Rakhmanov, Bärbel Keller, Klaus Warnatz, Hermann Eibel, Gabriele Niedermann, Orly Elpeleg, Stephan Ehl

    Foilsithe / Cruthaithe 2014
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  20. 20
    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting de réir Shoshana Revel‐Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V. V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert

    Foilsithe / Cruthaithe 2018
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