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

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy

X连锁肾上腺脑白质营养不良男性患者的性功能障碍及其与性腺功能减退和脊髓病的关系

van de Stadt, Stephanie I W; Wessel, Aimy M A; Langeveld, Mirjam; Engelen, Marc; Sjouke, Barbara

Medicine Development and Access for Rare Diseases: Can We Do Better?

罕见病药物研发与获取:我们能否做得更好?

Hollak, Carla E M; Rosenberg, Noa; Post, Colinda; Stolwijk, Nina; Manders, Evert; Schoenmakers, Daphne; Penninx, Bart; Reijnhout, Niels; Verdeyen, Kathelijn; Jonker, Roel; Bosch, Annet M; Langeveld, Mirjam; van der Wel, Vincent; de Visser, Saco; van den Berg, Sibren

Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemia.

胆固醇稳态和脂筏动力学是慢性淋巴细胞白血病肿瘤诱导免疫功能障碍的基础

Jacobs Chaja F, Peters Fleur S, Camerini Elena, Cretenet Gaspard, Rietveld Joanne, Schomakers Bauke V, van Weeghel Michel, Hahn Nico, Verberk Sanne G S, Van den Bossche Jan, Langeveld Mirjam, Kleijwegt Fleur, Eldering Eric, Zelcer Noam, Kater Arnon P, Simon-Molas Helga

GLA insufficiency should not be called Fabry disease

GLA功能不全不应被称为法布里病。

Houge, Gunnar; Langeveld, Mirjam; Oliveira, Joao-Paulo

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders

长链脂肪酸氧化障碍青少年患者的肌病症状和运动耐力

Schwantje, Marit; van Brussel, Marco; Takken, Tim; de Sain-van der Velden, Monique G M; Langeveld, Mirjam; Visser, Gepke; Fuchs, Sabine A

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

筛查工具可提高内科医生和儿科医生对遗传性代谢疾病患者运动障碍的识别率

Hulshof, Ellen M; Lantinga, Hugo P; Alkemade, Gonnie; Bosch, Annet M; Brands, Marion M; Vliet, Danique Draaisma-van; Haijer-Schreuder, Andrea B; Hoytema van Konijnenburg, Eva M M; Janssen, Mirian C H; van der Klauw, Melanie M; Langeveld, Mirjam; Lubout, Charlotte M A; van Ockenburg, Sonja L; Oussoren, Esmeralda; Panis, Bianca; Sjouke, Barbara; de Vries, Maaike; Wagenmakers, Margreet A E M; Wijnen, Mark; Sival, Deborah A; Tijssen, Marina A J; de Koning, Tom J; Koens, Lisette H

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

Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants

遗传性血脂异常性脾肿大:一种由载脂蛋白E (APOE) 变异引起的遗传性巨噬细胞贮积症

Ferreira, Elise A; Oud, Machteld M; van der Crabben, Saskia N; Versloot, Miranda; Goorden, Susan M I; van Karnebeek, Clara D M; Kroon, Jeffrey; Langeveld, Mirjam

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach

治疗理念反映了溶酶体贮积症领域未被满足的临床需求:以患者为中心的治疗方法的契机

Corazolla, Eleonore M; Langeveld, Mirjam; Brands, Marion M M G; Sjouke, Barbara; Hollak, Carla E M

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz