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

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects

个体化胆酸治疗在胆汁酸合成缺陷患者中的有效性和安全性

Polak, Yasmin; Kemper, Elles Marleen; Engelen, Marc; Klouwer, Femke C C; Berendse, Kevin; Vaz, Frédéric M; Koot, Bart G P; Swart, Eleonora Noortje L; Hollak, Carla E M

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

腺苷脱氨酶2缺乏症患者的神经系统表型:一项队列研究

Verschoof, Merelijne A; van Meenen, Laura C C; Andriessen, M Valérie E; Brinkman, Daniëlle M C; Kamphuis, Sylvia; Kuijpers, Taco W; Leavis, Helen L; Legger, G Elizabeth; Mulders-Manders, Catharina M; de Pagter, Anne P J; Rutgers, Abraham; van Well, Gijs T J; Coutinho, Jonathan M; Hak, A Elisabeth; van Montfrans, Joris M; Klouwer, Femke C C

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

重新定义α-甲基酰基辅酶A消旋酶(AMACR)缺乏症的表型

Klouwer, Femke C C; Roosendaal, Stefan D; Hollak, Carla E M; Langeveld, Mirjam; Poll-The, Bwee Tien; Sorge, Arlette J van; Wolf, Nicole I; Knaap, Marjo S van der; Engelen, Marc

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review

胆酸治疗胆汁酸合成缺陷的临床和生化疗效及安全性:系统评价

Polak, Yasmin; van Dussen, Laura; Kemper, E Marleen; Vaz, Frédéric M; Klouwer, Femke C C; Engelen, Marc; Hollak, Carla E M

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

全国DADA2队列的临床症状、实验室参数和长期随访

Andriessen, Marie Valérie E; Legger, G Elizabeth; Bredius, Robbert G M; van Gijn, Marielle E; Hak, A Elisabeth; Muller, Petra C E Hissink; Kamphuis, Sylvia; Klouwer, Femke C C; Kuijpers, Taco W; Leavis, Helen L; Nierkens, Stefan; Rutgers, Abraham; van der Veken, Lars T; van Well, Gijs T J; Mulders-Manders, Catharina M; van Montfrans, Joris M

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

先天性代谢缺陷患者的眼动障碍:37例患者的定量分析

Koens, Lisette H; Tuitert, Inge; Blokzijl, Hans; Engelen, Marc; Klouwer, Femke C C; Lange, Fiete; Leen, Wilhelmina G; Lunsing, Roelineke J; Koelman, Johannes H T M; Verrips, Aad; de Koning, Tom J; Tijssen, Marina A J

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

自噬抑制剂无法恢复最常见的过氧化物酶体生物合成缺陷细胞中的过氧化物酶体功能

Femke C C Klouwer, Kim D Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J A Wanders, Hans R Waterham

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

齐薇格综合征中的凝血病:维生素 K 的作用

Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The, C Heleen van Ommen

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

等位基因表达不平衡导致 PEX6 等位基因突变,引发泽尔韦格综合征

Kim D Falkenberg, Nancy E Braverman, Ann B Moser, Steven J Steinberg, Femke C C Klouwer, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Martin Engvall, Karin Naess, FrancJan van Spronsen, Irene Körver-Keularts, M Estela Rubio-Gozalbo, Sacha Ferdinandusse, Ronald J A Wanders, Hans R Waterham

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line

永生化人类肝细胞 (IHH) 细胞系中的过氧化物酶体异常

Femke C C Klouwer, Janet Koster, Sacha Ferdinandusse, Hans R Waterham