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

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions

异染性脑白质营养不良:新的治疗进展和新兴研究方向

Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter

基于共识的专家建议:白质消失的诊断和临床管理

van Voorst, Romy J; Schoenmakers, Daphne H; Bonkowsky, Joshua L; Vanderver, Adeline; Krägeloh-Mann, Ingeborg; Bernard, Geneviève; Bertini, Enrico; Fatemi, Ali; Sgobbi, Paulo V; Wolf, Nicole I; Groeschel, Samuel; Tonduti, Davide; Sevin, Caroline; Orthmann-Murphy, Jennifer L; Schöls, Ludger; Salsano, Ettore; Brais, Bernard; Jaffe, Nicole; Ter Horst, Kasper W; Hannema, Sabine E; Hayes, Katherine G; Meyburg, Jochen; van Heerde, Marc; Sbrocchi, Anne Marie; van Spaendonk, Rosalina; Thiffault, Isabelle; Hofsteenge, Geesje H; Sudmeier-Broek, Carolina; Timmer, Corrie; Skwirut, Donna; Buck, Allyson; Hollberg, Bret; Chapleau, Ron; Dekker, Hanka; Campbell, Susan G; Abbink, Truus E M; Leferink, Prisca S; van der Knaap, Marjo S

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures

定量磁共振成像能够区分不同的脑白质营养不良症,并与临床指标相关。

Stellingwerff, Menno D; Al-Saady, Murtadha L; Chan, Kwok-Shing; Dvorak, Adam; Marques, José P; Kolind, Shannon; Schoenmakers, Daphne H; van Voorst, Romy; Roosendaal, Stefan D; Barkhof, Frederik; Wolf, Nicole I; Berkhof, Johannes; Pouwels, Petra J W; van der Knaap, Marjo S

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

生命筛查:成人代谢专家对新生儿遗传代谢病筛查的看法

Langeveld, Mirjam; Sirrs, Sandra; Schoenmakers, Daphne H; Fazio, Timothy; van der Klauw, Melanie M; Maillot, Francois; Sharma, Reena; Tran, Christel; Ziagaki, Athanasia; Mochel, Fanny

The impact of vanishing white matter on unaffected family members

白质消失对未受影响的家庭成员的影响

van Voorst, Romy J; Schoenmakers, Daphne H; van Beelen, Irene; Gavazzi, Francesco; Chapleau, Alexandra; Vanderver, Adeline; Bernard, Geneviève; Krägeloh-Mann, Ingeborg; van der Knaap, Marjo S

International Comparison of Surgical Management Practices for Necrotizing Enterocolitis in Neonates: Insights from Cohorts in the Netherlands and Finland

新生儿坏死性小肠结肠炎外科治疗实践的国际比较:来自荷兰和芬兰队列研究的启示

Lahr, Bineta E; van Varsseveld, Otis C; Klerk, Daphne H; Pakarinen, Mikko; Koivusalo, Antti; Hulscher, Jan B F

Unlocking the Power of Inclusive Leadership: The Moderating Role of Climate for Inclusion on Job Satisfaction and Perceived Care Quality

释放包容性领导力的力量:包容性氛围对工作满意度和感知护理质量的调节作用

Phillips, Scott A; Dominguez, Daphne H; Vicci, Heidrich

Protocol for the process evaluation of a randomised clinical trial of incremental-start versus conventional haemodialysis: the TwoPlus study

一项随机临床试验(递增式启动与常规血液透析)的过程评估方案:TwoPlus 研究

Murea, Mariana; Foley, Kristie L; Gautam, Samir C; Flythe, Jennifer E; Raimann, Jochen G; Abdel-Rahman, Emaad; Awad, Alaa S; Niyyar, Vandana Dua; Kovach, Cassandra; Roberts, Glenda V; Jefferson, Nicole M; Conway, Paul T; Rosales, Laura M; Woldemichael, Jobira; Sheikh, Hiba I; Raman, Gaurav; Huml, Anne M; Knicely, Daphne H; Hasan, Irtiza; Makadia, Bhaktidevi; Lea, Janice; Daugirdas, John T; Gencerliler, Nihan; Divers, Jasmin; Kotanko, Peter; Nwaozuru, Ucheoma C

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases

罕见病领域多方利益相关者患者登记框架:聚焦神经遗传疾病

Schoenmakers, Daphne H; van den Berg, Sibren; Timmers, Lonneke; Adang, Laura A; Bäumer, Tobias; Bosch, Annet; van de Casteele, Marc; Datema, Mareen R; Dekker, Hanka; Donnelly, Conan; Driessens, Mariëtte H E; Graessner, Holm; Greger, Valerie; Haddad, Tala; Höglinger, Günter U; van den Hout, Hannerieke; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas; van der Knaap, Marjo S; Papadopoulou, Andri; Plueschke, Kelly; van Rijn, Sanne; Rosenberg, Noa; Saunier-Vivar, Elise F; Dos Santos Vieira, Bruna; Hollak, Carla E M; Goettsch, Wim G; Wolf, Nicole I