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

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

GOT2 缺乏症的全面基因型、表型和生化特征分析:一种伴有癫痫和异常运动的进行性神经发育障碍

German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza

Broad Vitamin B(6)-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

斑马鱼低磷酸血症(TNSALP 缺乏症)模型中广泛的维生素 B(6) 相关代谢紊乱

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Meijer Nils W F, Tessadori Federico, Bakkers Jeroen P W, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M

Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism

中链脂肪酸通过与葡萄糖和谷氨酰胺代谢的复杂相互作用发挥补充作用

German, Hannah M; Ciapaite, Jolita; Verhoeven-Duif, Nanda M; Jans, Judith J M

Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease

镰状细胞病患者的代谢血液特征及对丙酮酸激酶激活剂米塔匹伐特治疗的反应

van Dijk, Myrthe J; Ruiter, Titine J J; van der Veen, Sigrid; Rab, Minke A E; van Oirschot, Brigitte A; Bos, Jennifer; Derichs, Cleo; Rijneveld, Anita W; Cnossen, Marjon H; Nur, Erfan; Biemond, Bart J; Bartels, Marije; Schutgens, Roger E G; van Solinge, Wouter W; Jans, Judith J M; van Beers, Eduard J; van Wijk, Richard

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

不让任何一位患者掉队!专家建议运用创新技术诊断罕见病

van Karnebeek, Clara D M; O'Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anaïs; Groza, Tudor; Jans, Judith J M; Lassmann, Timo; Letinturier, Mary Catherine V; Montgomery, Stephen B; Robinson, Peter N; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim

A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease

一种新型的内源性代谢调节剂组合物可改善镰状细胞病患者的红细胞特性。

van Dijk, Myrthe J; Traets, Marissa J M; van Oirschot, Brigitte A; Ruiter, Titine J J; de Wilde, Jonathan R A; Bos, Jennifer; van Solinge, Wouter W; Koziel, Margaret J; Jans, Judith J M; Wani, Revati; van Beers, Eduard J; van Wijk, Richard; Rab, Minke A E

One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study

米塔匹伐治疗镰状细胞病的一年安全性和有效性:一项 II 期开放标签研究的随访结果

van Dijk, Myrthe J; Rab, Minke A E; van Oirschot, Brigitte A; Bos, Jennifer; Derichs, Cleo; Rijneveld, Anita W; Cnossen, Marjon H; Nur, Erfan; Biemond, Bart J; Bartels, Marije; Jans, Judith J M; van Solinge, Wouter W; Schutgens, Roger E G; van Wijk, Richard; van Beers, Eduard J

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

非靶向代谢组学鉴定MYBPC3创始变异携带者中潜在的肥厚型心肌病生物标志物

Jansen, Mark; Schuldt, Maike; van Driel, Beau O; Schmidt, Amand F; Christiaans, Imke; van der Crabben, Saskia N; Hoedemaekers, Yvonne M; Dooijes, Dennis; Jongbloed, Jan D H; Boven, Ludolf G; Deprez, Ronald H Lekanne; Wilde, Arthur A M; Jans, Judith J M; van der Velden, Jolanda; de Boer, Rudolf A; van Tintelen, J Peter; Asselbergs, Folkert W; Baas, Annette F

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

先天性门体分流患者的葡萄糖稳态异常和空腹不耐受

van Albada, Mirjam E; Shah, Pratik; Derks, Terry G J; Fuchs, Sabine; Jans, Judith J M; McLin, Valérie; van der Doef, Hubert P J

Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome

与点头综合征相关的寄生虫、细菌、病毒、免疫介导、代谢和营养因素

Edridge, Arthur W D; Abd-Elfarag, Gasim; Deijs, Martin; Broeks, Melissa H; Cristella, Cosimo; Sie, Brandon; Vaz, Frédéric M; Jans, Judith J M; Calis, Job; Verhoef, Hans; Demir, Ayse; Poppert, Sven; Nickel, Beatrice; van Dam, Alje; Sebit, Boy; Titulaer, Maarten J; Verweij, Jaco J; de Jong, Menno D; van Gool, Tom; Faragher, Brian; Verhoeven-Duif, Nanda M; Elledge, Stephen J; van der Hoek, Lia; Boele van Hensbroek, Michael