학술논문
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'학술논문'
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Academic Journal
Shoshana Revel-Vilk; Varda Shalev; Aidan Gill; Ora Paltiel; Orly Manor; Avraham Tenenbaum; Liat Azani; Gabriel Chodick
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Academic Journal
International Journal of Translational Medicine, Vol 2, Iss 3, Pp 506-514 (2022)
Academic Journal
Minja Pehrsson; Hanna Heikkinen; Ulla Wartiovaara-Kautto; Sampo Mäntylahti; Pia Bäckström; Mariann I. Lassenius; Kristiina Uusi-Rauva; Olli Carpén; Kaisa Elomaa
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100911- (2022)
Report
Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher Disease
Balistreri WF, Murray KF, Rosenthal P, Bansal S, Lin CH, Kersey K, Massetto B, Zhu Y, Kanwar B, German P, Svarovskaia E, Brainard DM, Wen J, Gonzalez-Peralta RP, Jonas MM, Schwarz K. The safety and effectiveness of ledipasvir-sofosbuvir in adolescents 12-17 years old with hepatitisC virus genotype 1 infection. Hepatology. 2017 Aug;66(2):371-378. doi: 10.1002/hep.28995. Epub 2017 Jun 19.
KF Murray, W Balistreri, S Bansal, et al. Ledipasvir/sofosbuvir ± ribavirin for 12 or 24 weeks is safe and effective in children 6-11 years old with chronic hepatitisC infection. EASL International Liver Congress. Amsterdam, April 19-23, 2017. Abstract GS-010.
Adar T, Ilan Y, Elstein D, Zimran A. Liver involvement inGaucher disease - Review and clinical approach. Blood Cells Mol Dis. 2018 Feb;68:66-73. doi: 10.1016/j.bcmd.2016.10.001. Epub 2016 Oct 19.
Balistreri WF, Murray KF, Rosenthal P, Bansal S, Lin CH, Kersey K, Massetto B, Zhu Y, Kanwar B, German P, Svarovskaia E, Brainard DM, Wen J, Gonzalez-Peralta RP, Jonas MM, Schwarz K. The safety and effectiveness of ledipasvir-sofosbuvir in adolescents 12-17 years old with hepatitis
KF Murray, W Balistreri, S Bansal, et al. Ledipasvir/sofosbuvir ± ribavirin for 12 or 24 weeks is safe and effective in children 6-11 years old with chronic hepatitis
Adar T, Ilan Y, Elstein D, Zimran A. Liver involvement in
Report
Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity?
Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A.Gaucher's disease. Lancet. 2001 Jul 28;358(9278):324-7. doi: 10.1016/S0140-6736(01)05490-3. No abstract available.
Butters TD.Gaucher disease. Curr Opin Chem Biol. 2007 Aug;11(4):412-8. doi: 10.1016/j.cbpa.2007.05.035. Epub 2007 Jul 23.
Beutler E.Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. doi: 10.1111/j.1651-2227.2006.tb02398.x.
Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet. 2004 Aug;75(2):282-93. doi: 10.1086/423146. Epub 2004 Jun 18.
Beutler E.Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5384-90. doi: 10.1073/pnas.90.12.5384.
Zigmond E LG, Pappo O, Zangen S, Levy Sklair M, Hemed N, Rabbani E, Itamar R, Ilan Y, Margalit M. Treatment of non-alcoholic steatohepatitis by B-glucosylceramide: A phase I/II clinical study. Hepatology 2006;44 .180A, .
Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A.
Butters TD.
Beutler E.
Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet. 2004 Aug;75(2):282-93. doi: 10.1086/423146. Epub 2004 Jun 18.
Beutler E.
Zigmond E LG, Pappo O, Zangen S, Levy Sklair M, Hemed N, Rabbani E, Itamar R, Ilan Y, Margalit M. Treatment of non-alcoholic steatohepatitis by B-glucosylceramide: A phase I/II clinical study. Hepatology 2006;44 .180A, .
Academic Journal
Therapeutics and Clinical Risk Management, Vol 21, Pp 93-101 (2025)
Academic Journal
Markku J. Savolainen; Antti Karlsson; Samppa Rohkimainen; Iiro Toppila; Mariann I. Lassenius; Carlos Vaca Falconi; Kristiina Uusi-Rauva; Kaisa Elomaa
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100725- (2021)
Academic Journal
Eline C. B. Eskes; Laura vanDussen; Johannes M. F. G. Aerts; Martijn J. C. van derLienden; Mario Maas; Erik M. Akkerman; André B. P. vanKuilenburg; Barbara Sjouke; Carla E. M. Hollak
JIMD Reports, Vol 65, Iss 5, Pp 330-340 (2024)
Academic Journal
V. Gragnaniello; D. Gueraldi; A. Saracini; D. Velasquez Rivas; C. Cazzorla; L. Salviati; A.B. Burlina
Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101187- (2025)
Academic Journal
Miguel V. Guerra; Juan Castro; Antonio Moreno; Elisa Balboa; Juan J. Marugan; Alejandra R. Alvarez; Silvana Zanlungo
Antioxidants, Vol 14, Iss 5, p 611 (2025)
Conference
Chakraborty, S.; Tien, K.; Frolov, D.; Frank, D.; Rosno, P.; Yeck, M.; Bulzacchelli, J.; Baks, C.; Richetta, R.; Schmerbeck, T.; Underwood, D.; Glick, J.; Robertazzi, R.; Carter, A.; Snell, B.; Ramirez, D.; Inoue, K.; Wisnieff, D.; Moertl, D.; Betke, J.; Lekuch, S.; Timmerwilke, J.; Joshi, R.; Davies, A.; Song, P.; Gaucher, B.; Friedman, D.
2024 IEEE European Solid-State Electronics Research Conference (ESSERC) Solid-State Electronics Research Conference (ESSERC), 2024 IEEE European. :153-156 Sep, 2024
Report
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Alexion Pharmaceuticals, Inc.; BioMarin Pharmaceutical; Cure Sanfilippo Foundation; Dana's Angels Research Trust (DART); Mirum Pharmaceuticals, Inc.; Orchard Therapeutics; Passage Bio, Inc.; Genzyme, a Sanofi Company; Sio Gene Therapies; Takeda Pharmaceuticals North America, Inc.; The FireFly Fund; The Noah's Hope - Hope 4 Bridget Family Foundations; Travere Therapeutics, Inc.; Ultragenyx Pharmaceutical Inc; Ara Parseghian Medical Research Fund; New York State Department of Health; Case Western Reserve University
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: A comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar.
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, BoyleC , Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, YuC , Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: A comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar.
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu
Academic Journal
Dariia Yehorova; Nikolas Alansson; Ruidan Shen; Joshua M. Denson; Michael Robinson; Valeria A. Risso; Nuria Ramirez Molina; J. Patrick Loria; Eric A. Gaucher; Jose M. Sanchez-Ruiz; Alvan C. Hengge; Sean J. Johnson; Shina C. L. Kamerlin
JACS Au, Vol 6, Iss 1, Pp 59-81 (2025)
Report
A Long-term Follow-up Study of Gaucher Disease
Academic Journal
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Academic Journal
Suelen Porto Basgalupp; Vivian Altmann; Filippo Pinto e Vairo; Ida Vanessa Doederlein Schwartz; Marina Siebert; Renata Cravo; Erlane M. Ribeiro; Augusto C. dos Santos; Louise L. de Camargo Pinto; Carolina C. Militão; Luiz Fernando Andrade
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101006- (2023)
Conference
Gaucher, A.; Cattoni, A.; Massiot, I.; Dupuis, C.; Chen, W.; Cariou, R.; Foldyna, M.; Cabarrocas, P. Roca i; Lalouat, L.; Drouard, E.; Seassal, C.; Collin, S.
2015 IEEE 42nd Photovoltaic Specialist Conference (PVSC) Photovoltaic Specialist Conference (PVSC), 2015 IEEE 42nd. :1-3 Jun, 2015
Academic Journal
Annals of Pediatric Cardiology, Vol 1, Iss 2, Pp 144-146 (2008)
Academic Journal
Frontiers in Pediatrics, Vol 11 (2023)
Academic Journal
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100980- (2023)
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[검색어] Gaucher, C.
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