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

Two commonly reported incidental variants in OTC are associated with late-onset disease

OTC基因中两种常见的偶然变异与晚发性疾病相关。

Lang, Steven H; Lo, Russell S; Cromie, Gareth A; Dudley, Aimée M; Mew, Nicholas Ah; Simpson, Kara; Sutton, Vernon Reid; Darilek, Sandra; Ali, Saima; Snyder, Matthew T; Lee, Brendan; Marom, Ronit; Nagamani, Sandesh C S; Burrage, Lindsay C

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

基因组测序揭示了假外显子在罕见遗传病中的作用

Pitsava, Georgia; Hawley, Megan; Auriga, Light; de Dios, Ivan; Ko, Arthur; Marmolejos, Sofia; Almalvez, Miguel; Chen, Ingrid; Scozzaro, Kaylee; Zhao, Jianhua; Barrick, Rebekah; Mew, Nicholas Ah; Fusaro, Vincent A; LoTempio, Jonathan; Taylor, Matthew; Mestroni, Luisa; Graw, Sharon; Milewicz, Dianna; Guo, Dongchuan; Murdock, David R; Bujakowska, Kinga M; Xiao, Changrui; Délot, Emmanuèle C; Berger, Seth I; Vilain, Eric

1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

1-(13)C-丙酸呼气试验作为评估甲基丙二酸血症 (MMA) 肝脏靶向治疗疗效的替代终点

Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P

Correction to: 1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

更正:1-(13)C-丙酸呼气试验作为评估甲基丙二酸血症 (MMA) 肝脏靶向治疗疗效的替代终点

Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy

接受持续肾脏替代治疗的儿科患者高氨血症管理共识指南

Raina, Rupesh; Bedoyan, Jirair K; Lichter-Konecki, Uta; Jouvet, Philippe; Picca, Stefano; Mew, Nicholas Ah; Machado, Marcel C; Chakraborty, Ronith; Vemuganti, Meghana; Grewal, Manpreet K; Bunchman, Timothy; Sethi, Sidharth Kumar; Krishnappa, Vinod; McCulloch, Mignon; Alhasan, Khalid; Bagga, Arvind; Basu, Rajit K; Schaefer, Franz; Filler, Guido; Warady, Bradley A

Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare disease

尿素循环障碍的药物治疗与肝移植之争:罕见病家长治疗决策的概念框架

Gerstein, Maya T; Markus, Anne R; Gianattasio, Kan Z; Le Mons, Cynthia; Bartos, Janice; Stevens, David M; Mew, Nicholas Ah

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

对1095例尿素循环障碍患者进行跨大西洋联合比较数据分析——罕见病临床研究的成功策略

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

ABL1 的种系突变会导致常染色体显性遗传综合征,其特征是先天性心脏缺陷和骨骼畸形

Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L Arnold, Chunjing Qu, Yan Ding, Donna M Muzny, Richard A Gibbs, Christine M Eng, Magdalena Walkiewicz, Fan Xia, Sharon E Plon, James R Lupski, Christian P Schaaf