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

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients

NBAS相关疾病的肝脏表型:230例患者的临床病程、预后因素和结局

Peters, Bianca; Schlieben, Lea Dewi; Brennenstuhl, Heiko; Arikan, Cigdem; Bedoyan, Sarah M; Bulut, Fatma Derya; Crushell, Ellen; Dionisi-Vici, Carlo; Drab, Ada; Fichtner, Alexander; Garcia, Aixa Gonzalez; Fry, Deanna; Garbade, Sven F; Hammann, Nicole; Hadzic, Nedim; Hegarty, Robert; Jørgensen, Marianne Hørby; Laaß, Martin; Lainka, Elke; Leghlam, Lina; Lurz, Eberhard; Mungan, Halise Neslihan Önenli; Pietrobattista, Andrea; Polo, Begona; Socha, Piotr; Squires, James E; Sun, Tian; Vogel, Georg F; Prokisch, Holger; Kölker, Stefan; Hoffmann, Georg F; Staufner, Christian; Lenz, Dominic

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

囊泡运输障碍可导致复发性急性肝衰竭:NBAS、RINT1 和 SCYL1 缺陷

Peters, Bianca; Dattner, Tal; Schlieben, Lea D; Sun, Tian; Staufner, Christian; Lenz, Dominic

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients

二氢硫辛酰胺脱氢酶缺乏症(DLDD)肝型:52例患者的表型谱、实验室检查结果和治疗方法

Hammann, Nicole; Staufner, Christian; Schlieben, Lea Dewi; Dezsőfi-Gottl, Antal; Feichtinger, René G; Häberle, Johannes; Junge, Norman; Konstantopoulou, Vassiliki; Kopajtich, Robert; McLin, Valérie; Rymen, Daisy; Slavetinsky, Christoph; Sturm, Ekkehard; Mayr, Johannes A; Wagner, Matias; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg F; Lenz, Dominic

SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.

CALFAN 综合征中的 SCYL1 缺乏与内质网应激和细胞死亡有关。

Hellicar John, Dattner Tal, Sun Tian, Percival Lily, Chrisp Ruby, Pietrobattista Andrea, Witkos Tomasz, Mironov Aleksander, Leghlam Lina, Jentsch Carolin, Koelker Stefan, Hoffmann Georg F, Staufner Christian, Hong Wanjin, Lenz Dominic, Lowe Martin

Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany

德国一项前瞻性、全国性、基于人群的儿童急性肝衰竭监测研究

Lenz, Dominic; Abdulaziz, Muhammad; Peters, Bianca; Wagner, Matias; Schlieben, Lea D; Corman, Victor M; Baumann, Ulrich; Bufler, Philip; Dattner, Tal; Ganschow, Rainer; Genzel, Kristin; Hammann, Nicole; Hartleif, Steffen; Hegen, Bianca; Henning, Stephan; Hoerning, André; Jankofsky, Martin; Junge, Norman; Kathemann, Simone; Knoppke, Birgit; Kohl-Sobania, Martina; Laass, Martin; Lainka, Elke; Lurz, Eberhard; Melter, Michael; Müller, Hanna; Pilic, Denisa; Ries, Markus; Schiefele, Lisa; Schwerd, Tobias; Sturm, Ekkehard; Wegner, Mechtild; Urschitz, Michael S; Garbade, Sven F; Wenning, Daniel; Drosten, Christian; Fichtner, Alexander; Kölker, Stefan; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian

An atypical presentation in a child with propionic acidemia? Better think twice!

儿童丙酸血症出现非典型表现?最好三思!

Burkhardt, Tim; Kastor, Katharine L; Christ, Stine; Opladen, Thomas; Staufner, Christian; Beck-Wödl, Stefanie; Haack, Tobias; Hempel, Maja; Seitz, Angelika; Kölker, Stefan

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS

LC-MS/MS 同时测定胞浆氨酰-tRNA 合成酶活性

Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, Dominic Lenz, Magali Frugier, Patrick Verloo, Hanna Mandel, Joshua Manor, Rachel Kassel, Willemijn E Corpeleijn, Sanne van der Rijt, Elsbeth M Schroor, Silvy J M van Dooren, Christian Staufner, Gajja S Salomons, Desirée E C Smith

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

脱氧鸟苷激酶缺乏症:自然病程和肝移植结果

Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

aRgus:用于遗传易感性评估的非同义单核苷酸变异的多层次可视化和高级致病性评分建模

Schröter, Julian; Dattner, Tal; Hüllein, Jennifer; Jayme, Alejandra; Heuveline, Vincent; Hoffmann, Georg F; Kölker, Stefan; Lenz, Dominic; Opladen, Thomas; Popp, Bernt; Schaaf, Christian P; Staufner, Christian; Syrbe, Steffen; Uhrig, Sebastian; Hübschmann, Daniel; Brennenstuhl, Heiko