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

Retinal microstructual and microvascular changes in mucopolysaccharidoses

粘多糖贮积症的视网膜微结构和微血管变化

Wipprecht, Lucas; Borchers, Anna J; Stingl, Julia V; Schmitz, Lucia Segura; von Plettenberg, Karoline; Hennermann, Julia B; Hopf, Susanne; Pitz, Susanne; Matlach, Juliane

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.

亚硫酸盐氧化酶缺乏会导致过硫化损失和硫化氢释放。

Fu Chun-Yu, Kohl Joshua B, Liebsch Filip, D'Andrea Davide, Ditrói Tamás, Ogata Seiryo, Neuser Franziska, Mai Max, Mellis Anna T, Kouroussis Emilia, Morita Masanobu, Gehling Titus, Santamaria-Araujo José Angel, Yeo Sin Yuin, Endepols Heike, Křížková Michaela, Kozich Viktor, Krueger Marcus, Hennermann Julia B, Barayeu Uladzimir, Akaike Takaaki, Nagy Peter, Filipovic Milos, Schwarz Guenter

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy

粘多糖贮积症 II 型患者瓣膜疾病的自然病程及酶替代疗法的影响

Kampmann, Christoph; Lampe, Christina; Wiethoff, Christiane M; Arash-Kaps, Laila; Mengel, Eugen; Reinke, Joerg; Beck, Michael; Hennermann, Julia B; Abu-Tair, Tariq

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

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey

α-甘露糖苷酶缺乏症患者的活动能力、疼痛/不适、自我护理和心理健康状况的变化:一项国际照护者和患者调查

Stepien, Karolina M; Thomas, Sophie; Hennermann, Julia B; Lampe, Christina; Muschol, Nicole M; Ballesta-Martínez, Maria Juliana; Cruz, Jordi; López-Rodríguez, Mónica; Barth, Anneliese; Magner, Martin; Lund, Allan M; Plaiasu, Vasilica; Ballabeni, Andrea; Donà, Francesca; Morgan, Heather M; Guffon, Nathalie

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial

米格司他治疗法布里病脑部结局的影响——来自前瞻性观察性FAMOUS试验的结果

Choudhury, Momoko; Lenders, Malte; Laufer, Pauline; Masthoff, Max; Canaan-Kühl, Sima; Kurschat, Christine; Muschol, Nicole; Hennermann, Julia B; Cybulla, Markus; Kaufeld, Jessica; Brand, Eva; Bischof, Antje

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale

一项为期 12 个月的双盲随机试验评估了阿瑞莫克洛治疗尼曼-匹克病 C 型 (NPC) 的疗效:提出了一种重新评分的 4 域 NPC 临床严重程度量表。

Mengel, Eugen; Patterson, Marc C; Da Riol, Rosalia M; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine Weller; Harmatz, Paul; Hennermann, Julia B; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; LaGorio, Lisa; Berry-Kravis, Elizabeth; Porter, Forbes D; Solomon, Beth; Himmelstrup, Louise; Mickle, Travis; Guenther, Sven; Dali, Christine Í

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia

两例糖原贮积症 Ia 型合并子痫前期患者的胎盘病理

Laufs, V; Hasenburg, A; Busch, M A; Lang, F; Macchiella, D; Mildenberger, E; Seidmann, L; Hennermann, J B

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity

α-甘露糖苷酶缺乏症的延迟诊断和临床病程:一项对25例不同严重程度患者的回顾性研究

Nurse, James H; Hennermann, Julia B; Curiati, Marco A; Vashakmadze, Nato; Lampe, Christina; Magalhães, Marina; Donoghue, Sarah; Macário, Maria Carmo; Plaiasu, Vasilica; Tunde, Gal; Stepien, Karolina M

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

长链羟基脂肪酸氧化障碍的神经系统预后

Mütze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M; Lindner, Martin; Husain, Ralf A; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, René; Thimm, Eva; Vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B; Hörbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F; Garbade, Sven F; Grünert, Sarah C; Kölker, Stefan