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C

Can Fıçıcıoğlu

childrens hospital of philadelphia

34H指数
216论文数
5.6K被引数
收录论文 119
发表时间
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Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period尼帕克病个体中使用阿利莫克隆的长期真实世界安全性和有效性：来自美国早期准入计划为期4年的结果
errMolecular Genetics and Metabolism
IF3.5
err2026-08-01
err0
PREAI
errBerry-Kravis, Elizabeth; Abreu, Nicolas J.; Al-Hertani, Walla; Dhamija, Radhika; Ficicioglu, Can; Julich, Kristina; Hastings, Caroline; Hillman, Paul R.; Leslie, Nancy; Ortiz, Damara; Peters, Melinda; Schleifer, Paula; O'Reilly, Ronan; Ornstein, Blair C.; Dali, Christine i
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2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C2025年尼曼-皮克病C型的共识临床管理指南
errJournal of Inherited Metabolic Disease
IF3.8
err2026-04-26
err0
errOAAI
errTarekegn Hiwot; Forbes D. Porter; Tatiana Bremova-Ertl; Uma Ramaswami; Caroline Hastings; Bénédicte Héron; Justin Hopkin; Joella Melville; Hernan Amartino; Mireia del Toro; Federica Deodato; Fatih Ezgü; Paul Gissen; James B. Gibson; Can Ficicioglu; Roberto Giugliani; Orna Staretz-Chacham; Frances Platt; Nathalie Guffon; Kristina Julich; Nikola Kresojević; Anna Lehman; Yann Nadjar; Susanne A. Schneider; Simon Jones; Eugen Mengel; Michel Tchan; Mark Walterfang; Ozlem Goker-Alpan; Charlotte Dawson; Sandra Cowie; Toni Mathieson; Elizabeth Berry-Kravis; Marc C. Patterson
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Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies使用velaglucerase alfa治疗的患者中1型戈谢病骨矿物质密度的改善：临床研究结果
errJournal of Clinical Medicine
IF2.9
err2026-04-06
err0
errOAAI
errAri Zimran; Jaco Botha; Richard Eastell; Can Ficicioglu; Richard D. Finkelman; Dafna Frydman; Pilar Giraldo; Ozlem Goker-Alpan; Priya S. Kishnani; Heather Lau; Noa Ruhrman-Shahar; Derralynn A. Hughes
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Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts新型表型洞察：来自新生儿筛查队列中粘多糖贮积症II型IDS c.817C>T变异的研究
errInternational Journal of Neonatal Screening
IF4
err2026-03-03
err0
errOAAI
errÉliane Beauregard-Lacroix; Caitlin Menello; Madeline Steffensen; Hsiang-Yu Lin; Chih-Kuang Chuang; Shuan-Pei Lin; Can Ficicioglu
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Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry使用伊米苷酶治疗的戈谢病患者母婴结局：来自国际戈谢病协作组（ICGG）戈谢病登记研究妊娠子登记研究的真实世界证据
errJournal of Inherited Metabolic Disease
IF3.8
err2026-02-19
err0
errOAAI
errRevel-vilk, Shoshana; Deegan, Patrick; Day-salvatore, Debra; Goker-alpan, Ozlem; Mengel, Eugen; Batista, Julie L.; Carwile, Jenny L.; Perichon, Gabriela; Ficicioglu, Can
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Treatment initiation with immune tolerance induction in severe mucopolysaccharidosis type II
errMolecular Genetics and Metabolism
IF3.5
err2026-02-03
err0
PREAI
errMadeline Steffensen; Caitlin Menello; Mary Casini; Can Ficicioglu
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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyX连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析：多年观察研究的最终结果
errPediatric Neurology
IF2.1
err2025-11-01
err0
errOAAI
errMiller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
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Newborn Screening for Gaucher Disease: The New Jersey Experience戈谢病新生儿筛查：新泽西经验
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 34
IF4
err2025-09-29
err0
errOAAI
errCaitlin Menello; Shaney Pressley; Madeline Steffensen; Sarah Schmidt; Helio Pedro; Reena Jethva; Karen Valdez-Gonzalez; Darius J. Adams; Punita Gupta; Lorien Tambini King; Milen Velinov; Sharon Anderson; Peyman Bizargity; Beth Pletcher; Allysa Tuite; Christina Kresge; Debra Lynn Day-Salvatore; Ryan Kuehl; Can Ficicioglu
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Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening戈谢病早期诊断与管理：强调新生儿筛查关键作用的一组病例研究
errMOLECULAR GENETICS AND METABOLISM REPORTS
IF1.9
err2025-09-01
err0
errOAAI
errBeauregard-Lacroix, Eliane; Steffensen, Madeline; Menello, Caitlin; Ficicioglu, Can
err分享
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Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen宾夕法尼亚州新生儿筛查确诊的庞贝病患者五年结局
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 16
IF4
err2025-08-21
err0
PREAI
errHayley A. Ron; Owen Kane; Rose Guo; Caitlin Menello; Nicole Engelhardt; Shaney Pressley; Brenda DiBoscio; Madeline Steffensen; Sanmati Cuddapah; Kim Ng; Can Ficicioglu; Rebecca C. Ahrens-Nicklas
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Newborn Screening for Gaucher Disease: The New Jersey Experience新生儿筛查戈谢病：新泽西经验
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 34
IF4
err2025-08-21
err0
PREAI
errCaitlin Menello; Shaney Pressley; Madeline Steffensen; Sarah Schmidt; Helio Pedro; Reena Jethva; Karen Valdez-Gonzalez; Darius J. Adams; Punita Gupta; Lorien Tambini King; Milen Velinov; Sharon Anderson; Peyman Bizargity; Beth Pletcher; Allysa Tuite; Christina Kresge; Debra Lynn Day-Salvatore; Ryan Kuehl; Can Ficicioglu
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Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial聚乙二醇化蒂巴丁酶替代疗法在经典型同型半胱氨酸尿症成人中的安全性与有效性：COMPOSE 1/2期随机试验
errGenetics in Medicine
IF6.2
err2025-05-14
err0
PREAI
errCan Ficicioglu; Janet A. Thomas; Jaya Ganesh; David Kudrow; Melissa Lah; Wendy E. Smith; Jalé Güner; Sharon McDermott; Sagar A. Vaidya; Liz Wilkening; Harvey L. Levy
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Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen宾夕法尼亚州新生儿筛查确定的庞贝病患者的五年结局
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-02-24
err0
errOAAI
errRon, Hayley A.; Kane, Owen; Guo, Rose; Menello, Caitlin; Engelhardt, Nicole; Pressley, Shaney; Diboscio, Brenda; Steffensen, Madeline; Cuddapah, Sanmati; Ng, Kim; Ficicioglu, Can; Ahrens-Nicklas, Rebecca C.
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Newborn screening for Gaucher disease: The New Jersey experience
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMenello, Caitlin; Pressley, Shaney; Steffensen, Madeline; Pedro, Helio; Jethva, Reena; Gupta, Punita; Adams, Darius; Velinov, Milen; Bizargity, Peyman; Schmidt, Sarah; Day-Salvatore, Debra-Lynn; Ficiciogl, Can
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Campsiite® phase I/II/III: an interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHarmatz, Paul; Ficicioglu, Can; Giugliani, Roberto; Rajan, Deepa; Day-Salvatore, Debra-Lynn; Hagood, Joseph; Gilmor, Michelle; Cho, Yoonjin; Mulatya, Caroline; Phillips, Dawn; Boulos, Nidal; Pisani, Laura; Falabella, Paulo
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Bone mineral density improvements in velaglucerase alfa-treated patients with Gaucher disease: Real-world data from the Gaucher Outcome Survey (GOS)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errZimrana, Ari; Botha, Jaco; Eastellc, Richard; Ficicioglud, Can; Finkelmane, Richard D.; Frydmana, Dafna; Giraldof, Pilar; Goker-Alpang, Ozlem; Kishnanih, Priya S.; Laui, Heather A.; Ruhrman-Shaharj, Noa; Hughesk, Derralynn
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Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errFicicioglu, Can; Berry-Kravis, Elizabeth; Al-Hertani, Walla; Wang, Raymond Y.; Patterson, Marc; Pena, Loren; Julich, Kristina; Ortiz, Damara; Schleifer, Paula; Hillman, Paul; Hastings, Caroline A.; Orr, Blair; O'Reilly, Ronan J.; Gallo, Daniel
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Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBeauregard-Lacroix, Eliane; Steffensen, Madeline; Menello, Caitlin; Ficicioglu, Can
err分享
err收藏
Arimoclomol for the treatment of Niemann-Pick disease type C ina real-world setting: Long-term data from an expanded accessprogram in the United States
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBerry-Kravis, Elizabeth; Al-Hertani, Walla; Wang, Raymond Y.; Patterson, Marc; Ficicioglu, Can; Pena, Loren; Julich, Kristina; Ortiz, Damara; Schleifer, Paula; Hastings, Caroline A.; Hillman, Paul; O'Reilly, Ronan J.; Orr, Blair; Gallo, Daniel
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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
errHUMAN MUTATION
IF3.7
err2024-10-03
err0
errOAAI
errPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
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研究方向

暂时未获取到该数据
合作学者
合作期刊
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
S
Stephen W. Scherer
H 指数: 161 · 论文数: 1.1K
R
Richard Eastell
H 指数: 133 · 论文数: 1.1K
W
Wendy K. Chung
H 指数: 127 · 论文数: 1.3K
R
Renzo Guerrini
H 指数: 116 · 论文数: 2.1K
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