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

RNA-Based Therapies for Inherited Metabolic Disorders

RNA疗法在遗传性代谢疾病治疗中的应用

Vootukuri, Reddy Sreekanth; Gurung, Sonam; Ghosh, Roopkatha; Mills, Philippa B; Baruteau, Julien; Zhou, Haiyan

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

PNPO缺乏症是否应在子宫内治疗?产前吡哆醇治疗的临床发现

de Puyraimond, Chloé; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-François; Mills, Philippa B; Clayton, Peter T; Schiff, Manuel

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

评估尿液中6-氧代哌啶酸作为ALDH7A1缺乏症生物标志物的价值

Khalil, Youssef; Footitt, Emma; Vootukuri, Reddy; Wempe, Michael F; Coughlin, Curtis R 2nd; Batzios, Spyros; Wilson, Matthew P; Kožich, Viktor; Clayton, Peter T; Mills, Philippa B

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria

mRNA疗法可纠正临床前精氨酸琥珀酸尿症中谷胱甘肽代谢缺陷并恢复尿素生成。

Gurung, Sonam; Timmermand, Oskar Vilhelmsson; Perocheau, Dany; Gil-Martinez, Ana Luisa; Minnion, Magdalena; Touramanidou, Loukia; Fang, Sherry; Messina, Martina; Khalil, Youssef; Spiewak, Justyna; Barber, Abigail R; Edwards, Richard S; Pinto, Patricia Lipari; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G V; Ridout, Deborah; Heywood, Wendy; Hargreaves, Ian; Heales, Simon; Mills, Philippa B; Waddington, Simon N; Gissen, Paul; Eaton, Simon; Ryten, Mina; Feelisch, Martin; Frassetto, Andrea; Witney, Timothy H; Baruteau, Julien

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

运动障碍的发生率随年龄增长而增加,这与精氨酸琥珀酸尿症中轻微且有限的神经影像学异常形成对比。

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Alrashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G V; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien

Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders

以尼曼-匹克C型疾病为例,验证智能生物标志物组合在神经代谢疾病中应用的概念。

Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; Mills, Kevin; Gissen, Paul; Heywood, Wendy E

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

Beclin-1介导的自噬激活改善近端和远端尿素循环障碍

Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola

Gepotidacin Pharmacokinetics-Pharmacodynamics against Escherichia coli in the One-Compartment and Hollow-Fiber In Vitro Infection Model Systems

在单室和中空纤维体外感染模型系统中,吉泊他辛对大肠杆菌的药代动力学-药效学研究

VanScoy, Brian D; Lakota, Elizabeth A; Conde, Haley; Fikes, Steven; Bhavnani, Sujata M; Elefante, Philippa B; Scangarella-Oman, Nicole E; Ambrose, Paul G

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

接受酶替代疗法治疗的CLN2疾病患者,其脑脊液神经丝轻链水平在治疗两年后恢复正常。

Iwan, Katharina; Patel, Nina; Heslegrave, Amanda; Borisova, Mina; Lee, Laura; Bower, Rebecca; Mole, Sara E; Mills, Philippa B; Zetterberg, Henrik; Mills, Kevin; Gissen, Paul; Heywood, Wendy E

Investigation into the Semantic Density and Semantic Gravity Wave Profile of Teachers When Discussing Electrophilic Aromatic Substitution (S(E)Ar)

教师在讨论亲电芳香取代反应(S(E)Ar)时的语义密度和语义重力波特征调查

Cranwell, Philippa B; Whiteside, Karin L