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

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights

肌酸补充疗法对磷酸葡萄糖变位酶-1缺乏症相关先天性糖基化障碍的疗效:新的见解

Ambrose, Anastasia; McCabe, Morganne; Hung, Clara; Sosova, Iveta; Seres, Peter; Mercimek-Andrews, Saadet

Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program

对通过阿尔伯塔省新生儿筛查计划确诊的先天性甲状腺功能减退症患儿前三年的治疗情况进行评估

Sosova, Iveta; Archibald, Alyssa; Rosolowsky, Erik W; Rathwell, Sarah; Christian, Susan; Rosolowsky, Elizabeth T

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta

来自阿尔伯塔省单一代谢遗传中心的I型半乳糖血症患者的临床和生化表型、基因型及长期预后

Almenabawy, Nihal; Bahl, Shalini; Ostlund, Alyssa-Lyn; Ghai-Jain, Shailly; Sosova, Iveta; Chan, Alicia; Mercimek-Andrews, Saadet

Molecular characteristics of Mycobacterium tuberculosis drug-resistant isolates from HIV- and HIV+ tuberculosis patients in Russia

俄罗斯HIV阴性及HIV阳性结核病患者结核分枝杆菌耐药分离株的分子特征

Panova, Anna E; Vinokurov, Anatoliy S; Shemetova, Anastasiya A; Burmistrova, Irina A; Shulgina, Marina V; Samoilova, Anastasiya G; Vasilyeva, Irina A; Vakhrusheva, Diana V; Umpeleva, Tatiana V; Eremeeva, Nataliya I; Lavrenchuk, Leonid S; Golubeva, Lyudmila A; Danilova, Tatiana I; Vasilyeva, Tatiana B; Ugol'kova, Vera A; Sosova, Nataliya V; Lekhlyaider, Marina V; Gorshkova, Irina A; Romanova, Tatiana A

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

阿尔伯塔省新生儿镰状细胞病筛查方法:分子检测的优势

Zhou, Janet R; Ridsdale, Ross; MacNeil, Lauren; Lilley, Margaret; Hoang, Stephanie; Christian, Susan; Blumenschein, Pamela; Wolan, Vanessa; Bruce, Aisha; Singh, Gurpreet; Wright, Nicola; Parboosingh, Jillian S; Lamont, Ryan E; Sosova, Iveta

Newborn Screening: Current Status in Alberta, Canada

加拿大艾伯塔省新生儿筛查现状

De Souza, Andy; Wolan, Vanessa; Battochio, Angie; Christian, Susan; Hume, Stacey; Johner, Grace; Lilley, Margaret; Ridsdale, Ross; Schnabl, Kareena; Tran, Chi; Yuen-Jung, Jolene; Sosova, Iveta

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease

利用皮肤成纤维细胞的混合凝胶电泳辅助诊断线粒体疾病

Christopher Newell, Aneal Khan, David Sinasac, John Shoffner, Marisa W Friederich, Johan L K Van Hove, Stacey Hume, Jane Shearer, Iveta Sosova

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency

色氨酸2,3-双加氧酶缺乏引起的色氨酸血症

Ferreira, Patrick; Shin, Inchul; Sosova, Iveta; Dornevil, Kednerlin; Jain, Shailly; Dewey, Deborah; Liu, Fange; Liu, Aimin

Protein misfolding occurs by slow diffusion across multiple barriers in a rough energy landscape

蛋白质错误折叠的发生是由于蛋白质在粗糙的能量景观中缓慢扩散,跨越多个障碍所致。

Yu, Hao; Dee, Derek R; Liu, Xia; Brigley, Angela M; Sosova, Iveta; Woodside, Michael T

Hyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid

卡谷氨酸治疗腺癌患者高氨血症性脑病

Lazier, J; Lupichuk, S M; Sosova, I; Khan, A A