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

Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases

罕见病儿童和青少年回避/限制性食物摄入障碍的患病率

Boettcher, Johannes; Lücke, Thomas; Zapf, Holger; Daubmann, Anne; Denecke, Jonas; Kersting, Mathilde; Kalhoff, Hermann; Beblo, Skadi; Schmidt, Ricarda; Thiele, Alena; Hohmann, Sarah; Kiess, Wieland; Muntau, Ania C; Hilbert, Anja; Wiegand-Grefe, Silke

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial

塞匹蝶呤作为苯丙酮尿症患者的治疗方案:APHENITY试验的通俗易懂的总结

Muntau, Ania C; Gallagher, Sarah; Lah, Melissa; Belanger-Quintana, Amaya; Longo, Nicola

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

Acute Brugian filariasis in a German tourist after short-term travel to Sri Lanka, 2025

2025年,一名德国游客在斯里兰卡短期旅行后患上急性布鲁氏丝虫病。

Slesak, Günther; Muntau, Birgit; Tappe, Dennis

Expansion of CD103(+)CD69(+)CD8(+) cytotoxic liver tissue resident memory T cells and inflammatory monocytes in advanced biliary atresia

晚期胆道闭锁中CD103(+)CD69(+)CD8(+)细胞毒性肝组织驻留记忆T细胞和炎症单核细胞的扩增

Sibbertsen, Freya; Dress, Regine J; Weidemann, Sören Alexander; Möller, Katharina; Herden, Uta; Fischer, Lutz; Paul, Kevin; Oh, Jun; Tolosa, Eva; Schulz-Jürgensen, Sebastian; Gersting, Søren W; Muntau, Ania C; Dunay, Gábor A

Severe neurovascular hypertension in a 17-year-old girl cured by microvascular decompression

一名17岁女孩的严重神经血管性高血压通过显微血管减压术治愈

Middelkamp, Maximilian; Steffens, Paula-Sophie; Vogelsang, Valentina; Schild, Raphael; Gempt, Jens; Muntau, Ania C; Dührsen, Lasse

Personalized Genotype-Based Approach for Treatment of Phenylketonuria

基于基因型的个性化苯丙酮尿症治疗方法

Gundorova, Polina; Yousefi, Behnam; Woidy, Mathias; Rose-Heine, Malcolm Summer; Khatri, Robin; Kasten, Viviane; Bonn, Stefan; Muntau, Ania Carolina; Gersting, Soeren Waldemar

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

沙丙蝶呤在苯丙氨酸羟化酶缺乏症的儿童和成人患者中的长期安全性:Kuvan®成人、母亲和儿科欧洲注册研究多国观察性研究的最终结果

Feillet, François; Arnoux, Jean-Baptiste; Delgado, María Bueno; Burlina, Alberto; Chabrol, Brigitte; Kucuksayrac, Ece; Lagler, Florian B; Muntau, Ania C; Olsson, David; Paci, Sabrina; Rutsch, Frank; van Spronsen, Francjan J

PaedVacCOVID - safety of the BNT162b2 vaccine against the SARS-CoV-2 in children with and without comorbidities aged 5 to 11 years

PaedVacCOVID——BNT162b2疫苗在5至11岁有或无合并症儿童中预防SARS-CoV-2感染的安全性

Holzwarth, Sarah; Saadat, Kimiya; Jorczyk, Maximilian; Dreßen, Svenja; Kotsias-Konopelska, Sarah; Schlegtendal, Anne; Maier, Christoph; Schmitt, Jochen; Paul, Kevin; Pagel, Julia; Muntau, Ania C; Berner, Reinhard; Brinkmann, Folke; Toepfner, Nicole

The Family Stress Model in families of children with rare diseases: a cross-sectional multilevel path analysis for understanding family dynamics

罕见病患儿家庭的家庭压力模型:一项用于理解家庭动态的横断面多层次路径分析

Boettcher, Johannes; Hohmann, Sarah; Daubmann, Anne; Denecke, Jonas; Muntau, Ania C; Wiegand-Grefe, Silke; Zapf, Holger