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

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

细胞建模和拯救一种新的非编码遗传性糖原贮积症病因 IX。

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Mohan Shruthi, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

糖原贮积症新型非编码遗传病因的细胞建模与拯救 IX.

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

开发一种经临床验证的体外功能检测方法,用于评估新生儿筛查发现的庞贝病患者体内新型GAA变异体的致病性

Goomber, Shelly; Huggins, Erin; Rehder, Catherine W; Cohen, Jennifer L; Bali, Deeksha S; Kishnani, Priya S

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

除了预测诊断之外:测量生物素酶活性在肝糖原贮积症中是否发挥作用?

El-Gharbawy, Areeg; Tolun, Adviye A; Halaby, Carine A; Austin, Stephanie L; Kishnani, Priya S; Bali, Deeksha S

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

对接受酶替代疗法治疗的交叉反应性免疫物质(CRIM)阳性婴儿型庞贝病患者的免疫反应进行表征

Desai, Ankit K; Kazi, Zoheb B; Bali, Deeksha S; Kishnani, Priya S

Current State of the Art of Newborn Screening for Lysosomal Storage Disorders

溶酶体贮积症新生儿筛查的最新进展

Millington, David S; Bali, Deeksha S

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

重度心肌病作为成人晚发型庞贝病的首发症状:病例报告

Mori, Mari; Bailey, Lauren A; Estrada, Januario; Rehder, Catherine W; Li, Jennifer S; Rogers, Joseph G; Bali, Deeksha S; Buckley, Anne F; Kishnani, Priya S

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency

PHKA2 变异和肝磷酸化酶 b 激酶缺乏症患者的临床和分子变异性

Bali, Deeksha S; Goldstein, Jennifer L; Fredrickson, Keri; Austin, Stephanie; Pendyal, Surekha; Rehder, Catherine; Kishnani, Priya S

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

CRIM阴性婴儿型庞贝病:接受ERT单药治疗患者的免疫反应特征

Berrier, Kathryn L; Kazi, Zoheb B; Prater, Sean N; Bali, Deeksha S; Goldstein, Jennifer; Stefanescu, Mihaela C; Rehder, Catherine W; Botha, Eleanor G; Ellaway, Carolyn; Bhattacharya, Kaustuv; Tylki-Szymanska, Anna; Karabul, Nesrin; Rosenberg, Amy S; Kishnani, Priya S

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

临床实验室在婴儿庞贝病血液CRIM检测方面的经验

Bali, Deeksha S; Goldstein, Jennifer L; Rehder, Catherine; Kazi, Zoheb B; Berrier, Kathryn L; Dai, Jian; Kishnani, Priya S