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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

使用三庚酸甘油酯对患有乌头酸酶 2 缺乏症的两兄弟进行补充疗法

Maximilian Penkl, Johannes A Mayr, René G Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro

扩大 SLC25A42 相关疾病的遗传和临床谱,并检测泛酸以提高体外 CoA 水平

Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt

Mitochondrial DNA mutations in Medulloblastoma

髓母细胞瘤中的线粒体DNA突变

Funke, Viktoria L E; Sandmann, Sarah; Melcher, Viktoria; Seggewiss, Jochen; Horvath, Judit; Jäger, Natalie; Kool, Marcel; Jones, David T W; Pfister, Stefan M; Milde, Till; Rutkowski, Stefan; Mynarek, Martin; Varghese, Julian; Sträter, Ronald; Rust, Stephan; Seelhöfer, Anja; Reunert, Janine; Fiedler, Barbara; Schüller, Ulrich; Marquardt, Thorsten; Kerl, Kornelius

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients

胱氨酸病患者的肠溶半胱胺酒石酸盐

Klank, Sabrina; van Stein, Christina; Grüneberg, Marianne; Ottolenghi, Chris; Rauwolf, Kerstin K; Grebe, Jürgen; Reunert, Janine; Harms, Erik; Marquardt, Thorsten

Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient

儿科患者高转氨酶血症和肝纤维化与结合珠蛋白滞留和无结合珠蛋白血症相关

Sophia Gunzer, Andreas Kraus, Inka Buchroth, Marianne Grüneberg, Cordula Westermann, Saskia Biskup, Janine Reunert, Inga Grünewald, Thorsten Marquardt

Mannose supplementation in PMM2-CDG

PMM2-CDG 中的甘露糖补充

Taday, Roman; Park, Julien H; Grüneberg, Marianne; DuChesne, Ingrid; Reunert, Janine; Marquardt, Thorsten

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

对17例肾病性胱氨酸病患者使用速释和缓释半胱胺的比较

van Stein, Christina; Klank, Sabrina; Grüneberg, Marianne; Ottolenghi, Chris; Grebe, Jürgen; Reunert, Janine; Harms, Erik; Marquardt, Thorsten

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report

伴有线粒体功能障碍和心肌病的严重βIV-血影蛋白缺乏症——病例报告

Belkheir, Aziza Miriam; Reunert, Janine; Elpers, Christiane; van den Heuvel, Lambert; Rodenburg, Richard; Seelhöfer, Anja; Rust, Stephan; Jeibmann, Astrid; Frosch, Michael; Marquardt, Thorsten

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)

翻译平衡受到质疑:在甘露糖寡糖α-1,2-甘露糖苷酶先天性糖基化障碍(MAN1B1-CDG)中,双硫仑治疗期间糖基化未发生改变

Kemme, Lisa; Grüneberg, Marianne; Reunert, Janine; Rust, Stephan; Park, Julien; Westermann, Cordula; Wada, Yoshinao; Schwartz, Oliver; Marquardt, Thorsten