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

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

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

宾夕法尼亚州新生儿X连锁肾上腺脑白质营养不良筛查:数据和结果回顾

Priestley, Jessica R C; Adang, Laura A; Drewes Williams, Sarah; Lichter-Konecki, Uta; Menello, Caitlin; Engelhardt, Nicole M; DiPerna, James C; DiBoscio, Brenda; Ahrens-Nicklas, Rebecca C; Edmondson, Andrew C; Reynoso Santos, Francis Jeshira; Ficicioglu, Can

Newborn Screening for Pompe Disease: Pennsylvania Experience

新生儿庞贝病筛查:宾夕法尼亚州的经验

Ficicioglu, Can; Ahrens-Nicklas, Rebecca C; Barch, Joshua; Cuddapah, Sanmati R; DiBoscio, Brenda S; DiPerna, James C; Gordon, Patricia L; Henderson, Nadene; Menello, Caitlin; Luongo, Nicole; Ortiz, Damara; Xiao, Rui

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

粘多糖贮积症IVA的诊断过程及酶替代疗法的影响:一项同胞对照研究

Ficicioglu, Can; Matalon, Dena R; Luongo, Nicole; Menello, Caitlin; Kornafel, Tracy; Degnan, Andrew J

Randomized, double-blind clinical trial of two different modes of positive airway pressure therapy on adherence and efficacy in children

一项随机、双盲临床试验,比较两种不同模式的正压通气治疗对儿童患者依从性和疗效的影响。

Marcus, Carole L; Beck, Suzanne E; Traylor, Joel; Cornaglia, Mary Anne; Meltzer, Lisa J; DiFeo, Natalie; Karamessinis, Laurie R; Samuel, John; Falvo, Jennifer; DiMaria, Michelle; Gallagher, Paul R; Beris, Heidi; Menello, Mary Kate

Predictors of positive airway pressure therapy adherence in children: a prospective study

儿童持续气道正压治疗依从性的预测因素:一项前瞻性研究

DiFeo, Natalie; Meltzer, Lisa J; Beck, Suzanne E; Karamessinis, Laurie R; Cornaglia, Mary Anne; Traylor, Joel; Samuel, John; Gallagher, Paul R; Radcliffe, Jerilynn; Beris, Heidi; Menello, Mary Kate; Marcus, Carole L