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

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

利用 ClinGen 临床有效性框架评估溶酶体疾病相关基因

Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Pinto E Vairo, Filippo; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J; Goldstein, Jennifer

Developing a scoring system for gene curation prioritization in lysosomal diseases

开发溶酶体疾病基因注释优先级排序评分系统

Vernet Machado Bressan Wilke, Matheus; Goldstein, Jennifer; Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Fernandez, Raquel; Chen, Hongjie; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Yuzyuk, Tatiana; Craigen, William J; Pinto E Vairo, Filippo

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

利用 ClinGen 临床有效性框架评估与过氧化物酶体疾病相关的基因的证据强度,并更新过氧化物酶体疾病命名法。

Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

一名患有鸟氨酸氨基转移酶缺乏症的新生儿;对高氨血症相关回旋状萎缩生化表型的见解

Kaczmarczyk, Aneta; Baker, Mark; Diddle, Julianna; Yuzyuk, Tatiana; Valle, David; Lindstrom, Kristin

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy

单次口服吡哆醇对吡哆醇依赖性癫痫患者体内α-氨基己二酸半醛、哌啶-6-羧酸、哌啶酸和α-氨基己二酸水平的影响

Wang, Junjuan; Xue, Jiao; Gong, Pan; Wu, Minhang; Yang, Wenshuang; Jiang, Shiju; Wu, Ye; Jiang, Yuwu; Zhang, Yuehua; Yuzyuk, Tatiana; Li, Hong; Yang, Zhixian

Histone methyltransferase Smyd1 regulates mitochondrial energetics in the heart

组蛋白甲基转移酶 Smyd1 调节心脏的线粒体能量

Junco S Warren, Christopher M Tracy, Mickey R Miller, Aman Makaju, Marta W Szulik, Shin-Ichi Oka, Tatiana N Yuzyuk, James E Cox, Anil Kumar, Bucky K Lozier, Li Wang, June García Llana, Amira D Sabry, Keiko M Cawley, Dane W Barton, Yong Hwan Han, Sihem Boudina, Oliver Fiehn, Haley O Tucker, Alexey V

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

UMPS杂合子患者轻度乳清酸尿症:一种无临床后果的代谢异常

Wortmann, Saskia B; Chen, Margaret A; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D; Yuzyuk, Tatiana; Coughlin, Curtis R; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, Leo A J; Sampath, Srirangan; Pai, Emil F; Wevers, Ron A; Tiller, George E

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

线粒体三功能蛋白/长链3-羟基酰基辅酶A脱氢酶缺乏症患者的诊断、治疗和临床结果

De Biase, Irene; Viau, Krista S; Liu, Aiping; Yuzyuk, Tatiana; Botto, Lorenzo D; Pasquali, Marzia; Longo, Nicola

Quantitation of total fatty acids in plasma and serum by GC-NCI-MS

通过 GC-NCI-MS 定量血浆和血清中的总脂肪酸

E Kish-Trier, E L Schwarz, M Pasquali, T Yuzyuk

Metabolic remodeling in moderate synchronous versus dyssynchronous pacing-induced heart failure: integrated metabolomics and proteomics study

中度同步起搏与不同步起搏诱发心力衰竭的代谢重塑:代谢组学和蛋白质组学整合研究

Shibayama, Junko; Yuzyuk, Tatiana N; Cox, James; Makaju, Aman; Miller, Mickey; Lichter, Justin; Li, Hui; Leavy, Jane D; Franklin, Sarah; Zaitsev, Alexey V