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

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

线粒体功能障碍导致甲基丙二酸尿症出现神经元衰竭表型

Matthew C S Denley,Monique S Straub,Giulio Marcionelli,Miriam A Güra,David Penton,Igor Delvendahl,Martin Poms,Beata Vekeriotaite,Sarah Cherkaoui,Federica Conte,Ferdinand von Meyenn,D Sean Froese,Matthias R Baumgartner

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

仅靠新生儿筛查无法预防大多数婴儿出生第一年内发生的严重维生素B12缺乏症。

Kaufman, Christina; Margreitter, Julian; Herle, Marion; Bonfig, Walter; Däster, Corinne; Heinrich, Bianka; Karall, Daniela; Kogler, Hubert; Konstantopoulou, Vassiliki; Laemmle, Alexander; Malär, Reta; Müller, Pascal; Pöll, Veronika; Poms, Martin; Righini-Grunder, Franziska; Saurenmann, Rotraud K; Sluka, Susanna; von der Weid, Nicolas; Zeyda, Maximilian; Baumgartner, Matthias R; Huemer, Martina

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models

尿素循环障碍患者的新型治疗策略:药理学伴侣增强患者来源肝病模型中酶的稳定性和活性

Ramosaj, Adhuresa; Borsuk, Mariia; Underhaug, Jarl; Mathis, Déborah; Matsumoto, Shirou; Keogh, Adrian; Banz, Vanessa; Pandey, Amit V; Gougeard, Nadine; Rubio, Vicente; Martinez, Aurora; Allegri, Gabriella; Poms, Martin; Thöny, Beat; Häberle, Johannes; Laemmle, Alexander

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

脑肌酸缺乏症诊断延迟:一项横断面单中心研究的经验教训,以及2015年至2023年瑞士胍基乙酸和肌酸测量结果

Kaufman, Christina; D'Andrea, Anaïs; Hackenberg, Annette; Poms, Martin; Braissant, Olivier; Häberle, Johannes

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.

CPS1 缺陷的低效模型,用于研究高氨血症对发育中神经系统的影响

Bakshi Stuti, Diep Taryn, Willis Brandon J, Reyes Rachel, Wu Grace F, Makris Georgios, Poms Martin, Day Isabel, Sun Qin, Zhuravka Irina, Lueptow Lindsay, Tang Michelle, Cromie Gareth A, Dudley Aimée M, Häberle Johannes, Lipshutz Gerald S

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes

利用稳定同位素对尿素生成障碍进行表征和治疗监测

Allegri, Gabriella; Poms, Martin; Zürcher, Nadia; Rüfenacht, Véronique; Rimann, Nicole; Mathis, Déborah; Thöny, Beat; Gautschi, Matthias; Husain, Ralf A; Karall, Daniela; Orchel-Szastak, Karolina; Porta, Francesco; Roland, Dominique; Siri, Barbara; Dionisi-Vici, Carlo; Santer, René; Häberle, Johannes

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

通过新生儿筛查检测细胞内维生素B12活性降低的益处尚不明确

Knöpfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B; Konstantopoulou, Vassiliki; Huemer, Martina

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

晚发型鸟氨酸氨甲酰转移酶缺乏症的父女遗传:一种被低估的X连锁疾病遗传机制

Siri, Barbara; Olivieri, Giorgia; Lepri, Francesca Romana; Poms, Martin; Goffredo, Bianca Maria; Commone, Anna; Novelli, Antonio; Häberle, Johannes; Dionisi-Vici, Carlo

Impact of small molecule-mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

小分子介导的氨解毒抑制对肺部恶性肿瘤和肝脏代谢的影响

Makris, Georgios; Kayhan, Semih; Kreuzer, Marvin; Rüfenacht, Véronique; Faccin, Erica; Underhaug, Jarl; Diez-Fernandez, Carmen; Knobel, Philip A; Poms, Martin; Gougeard, Nadine; Rubio, Vicente; Martinez, Aurora; Pruschy, Martin; Häberle, Johannes

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

综合多组学揭示甲基丙二酰辅酶 A 变位酶缺乏症中的补充重组

Patrick Forny #, Ximena Bonilla #, David Lamparter #, Wenguang Shao #, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, M