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

Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus

尿液代谢组学预测极低出生体重动脉导管未闭患儿的急性肾损伤

Niesert, Moritz; Cannet, Claire; Fichtner, Alexander; Hoffmann, Georg F; Okun, Jürgen G; Pituk, Dóra; Gille, Christian; Pöschl, Johannes; Waldherr, Sina; Ziegler, Andreas; Westhoff, Jens H

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria

即时检测生物传感器在苯丙酮尿症患者中苯丙氨酸的实际应用

Gondrand, Corentin; Reischl-Hajiabadi, Anna T; Bonedeau, Estelle; Weiß, Nicolas; Schneider, Gerd; Fahn, Maurice; Myers, Frederic; Städle, Philipp Minel; Jeltsch, Kathrin; Hoffmann, Georg F; Okun, Jürgen G; Haas, Dorothea; Garbade, Sven F; Johnsson, Kai; Opladen, Thomas

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

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

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis

新生儿筛查对经典型异戊酸尿症患儿生存率和发育结局的影响:一项荟萃分析

Reischl-Hajiabadi, Anna T; Garbade, Sven F; Gleich, Florian; Schnabel-Besson, Elena; Posset, Roland; Zielonka, Matthias; Hoffmann, Georg F; Kölker, Stefan; Mütze, Ulrike

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

新生儿筛查发现患有遗传性代谢疾病的儿童及其父母所承受的心理社会和经济负担

Schnabel-Besson, Elena; Garbade, Sven F; Gleich, Florian; Grünert, Sarah C; Krämer, Johannes; Thimm, Eva; Hennermann, Julia B; Freisinger, Peter; Burgard, Peter; Gramer, Gwendolyn; Morath, Marina A; Tuncel, A Tunç; Keßler, Svenja; Hoffmann, Georg F; Kölker, Stefan; Mütze, Ulrike

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