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

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease

人们对 ES-Cu-Captisol 治疗 Menkes 病的安全性和有效性存在担忧

Kaler, Stephen G

Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial

在美国,一项随机1/2a期交叉试验评估了屈昔多巴治疗成人门克斯病和枕角综合征患者自主神经功能障碍的安全性和有效性。

Kaler, Maryann M; Brock, Guy; Jeanty, Christopher J; Iammarino, Megan A; Hampton, Kimberly A; Pham, Minh T; Sabo, Brenna T; Lowes, Linda P; Sullivan, Patricia; Goldstein, David S; Kaler, Stephen G

Intravenous AAV9-ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model

静脉注射AAV9-ATP7A联合皮下注射组氨酸铜可优化致命性门克斯病小鼠模型的治疗效果。

Venkataraman, Lalitha; Jeanty, Christopher J; Kaniganti, Tarun; Kennedy, Benjamin J; Sullivan, Patricia; Goldstein, David S; Kaler, Stephen G

Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease

针对脉络丛的病毒基因疗法可用于治疗α-甘露糖苷贮积症,这是一种典型的神经代谢溶酶体贮积症。

Choi, Eun-Young; Wolfe, John H; Kaler, Stephen G

Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female

一名既往健康的6岁女性出现与NDUFV1复合杂合子相关的急性重度乳酸性碱中毒

Kaler, Stephen G; Fyke, William; Lignelli-Dipple, Angela; Emmanuele, Valentina; Lee, Eun Bi; Lee, Hyein Kathy; Munk, Adiel; Morales Corado, Jose Andres; Iglesias, Alejandro; Mehrotra, Priyanka

Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis

迟发性进行性骨异位症:2 例无关病例及正电子发射断层扫描在诊断中的应用

Pham, Minh T; Mahan, John D; Shah, Summit H; Estes, Steven I; Kaler, Stephen G

Connecting copper and cancer: from transition metal signalling to metalloplasia

铜与癌症的联系:从过渡金属信号传导到金属增生

Ge, Eva J; Bush, Ashley I; Casini, Angela; Cobine, Paul A; Cross, Justin R; DeNicola, Gina M; Dou, Q Ping; Franz, Katherine J; Gohil, Vishal M; Gupta, Sanjeev; Kaler, Stephen G; Lutsenko, Svetlana; Mittal, Vivek; Petris, Michael J; Polishchuk, Roman; Ralle, Martina; Schilsky, Michael L; Tonks, Nicholas K; Vahdat, Linda T; Van Aelst, Linda; Xi, Dan; Yuan, Peng; Brady, Donita C; Chang, Christopher J

Expanding the clinical phenotype of FGFR1 internal tandem duplication

扩展FGFR1内部串联重复的临床表型

Kautto, Esko A; Schieffer, Kathleen M; McGrath, Sean; Miller, Anthony R; Hernandez-Gonzalez, Maria Elena; Choi, Samantha; Conces, Miriam R; Fernandez-Faith, Esteban; Ho, Mai-Lan; Lee, Kristy; Lillis, Anna P; Pearson, Gregory D; Kaler, Stephen G; Wilson, Richard K; Mardis, Elaine R; Magrini, Vincent; Leonard, Jeffrey; Cottrell, Catherine E

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

兄弟二人患有常染色体隐性遗传的ACTG2相关内脏肌病

Mori, Mari; Clause, Amanda R; Truxal, Kristen; Hagelstrom, R Tanner; Manickam, Kandamurugu; Kaler, Stephen G; Prasad, Vinay; Windster, Jonathan; Alves, Maria M; Di Lorenzo, Carlo

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

基于基因组聚合数据库(gnomAD)的 Menkes 病和 ATP7A 相关疾病的估计出生患病率

Kaler, Stephen G; Ferreira, Carlos R; Yam, Lung S