日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

伊米苷酶治疗戈谢病患者的母婴结局:来自国际戈谢病协作组(ICGG)戈谢病登记妊娠子登记的真实世界证据

Revel-Vilk, Shoshana; Deegan, Patrick; Day-Salvatore, Debra; Goker-Alpan, Ozlem; Mengel, Eugen; Batista, Julie L; Carwile, Jenny L; Perichon, Gabriela; Ficicioglu, Can

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

丙酸血症临床事件发生频率特征及生物标志物评估:一项自然史研究

Schwahn, Bernd C; Berry, Gerard T; Vernon, Hilary J; Li, Hong; Merritt Ii, J Lawrence; Schiff, Manuel; Chabrol, Brigitte; De Las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight D; Burton, Barbara K; Grunewald, Stephanie; Diaz, George A; Ficicioglu, Can; Morgan, Thomas; Luo, Junxiang; Attarwala, Husain; Liang, Min; Perera, Sue; Sikirica, Vanja

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies

使用维拉葡糖苷酶α治疗1型戈谢病患者可改善骨矿物质密度:临床研究结果

Zimran, Ari; Botha, Jaco; Eastell, Richard; Ficicioglu, Can; Finkelman, Richard D; Frydman, Dafna; Giraldo, Pilar; Goker-Alpan, Ozlem; Kishnani, Priya S; Lau, Heather; Ruhrman-Shahar, Noa; Hughes, Derralynn A

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, 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

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预后

Ron, 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

Newborn Screening for Gaucher Disease: The New Jersey Experience

新生儿戈谢病筛查:新泽西州的经验

Menello, Caitlin; Pressley, Shaney; Steffensen, Madeline; Schmidt, Sarah; Pedro, Helio; Jethva, Reena; Valdez-Gonzalez, Karen; Adams, Darius J; Gupta, Punita; King, Lorien Tambini; Velinov, Milen; Anderson, Sharon; Bizargity, Peyman; Pletcher, Beth; Tuite, Allysa; Kresge, Christina; Day-Salvatore, Debra Lynn; Kuehl, Ryan; Ficicioglu, Can

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts

新生儿筛查队列中粘多糖贮积症II型IDS c.817C>T变异的新表型见解

Beauregard-Lacroix, Éliane; Menello, Caitlin; Steffensen, Madeline; Lin, Hsiang-Yu; Chuang, Chih-Kuang; Lin, Shuan-Pei; Ficicioglu, Can

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening

戈谢病早期诊断和治疗:病例系列研究强调新生儿筛查的关键作用

Beauregard-Lacroix, Éliane; Steffensen, Madeline; Menello, Caitlin; Ficicioglu, Can

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

基因型/表型关系:来自 137 例 PMM2-CDG 患者的启示

Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomáš; Edmondson, Andrew C; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Bérat, 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; Õunap, Katrin

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

远程医疗儿科遗传护理的临床有效性

Szigety, Katherine M; Crowley, Terrence B; Gaiser, Kimberly B; Chen, Erin Y; Priestley, Jessica R C; Williams, Lydia S; Rangu, Sneha A; Wright, Christina M; Adusumalli, Priyanka; Ahrens-Nicklas, Rebecca C; Calderon, Brandon; Cuddapah, Sanmati R; Edmondson, Andrew; Ficicioglu, Can; Ganetzky, Rebecca; Kalish, Jennifer M; Krantz, Ian D; McDonald-McGinn, Donna M; Medne, Livija; Muraresku, Colleen; Pyle, Louise C; Zackai, Elaine H; Campbell, Ian M; Sheppard, Sarah E