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

Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria

重新审视人类乙醛酸代谢:新见解揭示多器官参与及其对原发性高草酸尿症siRNA疗法的意义

Wanders, Ronald J A; Groothoff, Jaap W; Deesker, Lisa J; Salido, Eduardo; Garrelfs, Sander F

Disorders of fatty acid homeostasis

脂肪酸稳态紊乱

Vaz, Frédéric M; Ferdinandusse, Sacha; Salomons, Gajja S; Wanders, Ronald J A

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

视网膜回旋萎缩的分子和细胞机制:为什么视网膜首先受到影响?

Buijs, Mark J N; Balfoort, Berith M; Brands, Marion M; Ten Asbroek, Anneloor L M A; Boon, Camiel J F; Diederen, Roselie M H; Timmer, Corrie; Wagenmakers, Margreet A E M; Waterham, Hans R; Wanders, Ronald J A; Houtkooper, Riekelt H; van Karnebeek, Clara D; Bergen, Arthur A

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Zellweger谱系障碍和X连锁肾上腺脑白质营养不良患者中MAPK通路异常激活和自噬抑制

Gragnaniello, Vincenza; Gueraldi, Daniela; Puma, Andrea; Commone, Anna; Cazzorla, Chiara; Loro, Christian; Porcù, Elena; Stornaiuolo, Maria; Miglioranza, Paolo; Salviati, Leonardo; Wanders, Ronald J A; Burlina, Alberto

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

一种改进的血斑功能检测方法,利用单溶血磷脂/心磷脂比值诊断巴特综合征。

Vaz, Frédéric M; van Lenthe, Henk; Vervaart, Martin A T; Stet, Femke S; Klinkspoor, Johanne H; Vernon, Hilary J; Goorden, Susan M I; Houtkooper, Riekelt H; Kulik, Willem; Wanders, Ronald J A

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

荷兰引入新生儿筛查后发现的线粒体三功能蛋白缺乏症患者的遗传、生化和临床谱

Schwantje, Marit; Fuchs, Sabine A; de Boer, Lonneke; Bosch, Annet M; Cuppen, Inge; Dekkers, Eugenie; Derks, Terry G J; Ferdinandusse, Sacha; Ijlst, Lodewijk; Houtkooper, Riekelt H; Maase, Rose; van der Pol, W Ludo; de Vries, Maaike C; Verschoof-Puite, Rendelien K; Wanders, Ronald J A; Williams, Monique; Wijburg, Frits; Visser, Gepke

A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

一个轻度钠依赖性多维生素转运蛋白(SMVT)缺乏症病例,说明了治疗反应在变异分类中的重要性。

Hauth, Ingeborg; Waterham, Hans R; Wanders, Ronald J A; van der Crabben, Saskia N; van Karnebeek, Clara D M

Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients

原发性高草酸尿症1型患者的内源性草酸盐生成

Garrelfs, Sander F; van Harskamp, Dewi; Peters-Sengers, Hessel; van den Akker, Chris H P; Wanders, Ronald J A; Wijburg, Frits A; van Goudoever, Johannes B; Groothoff, Jaap W; Schierbeek, Henk; Oosterveld, Michiel J S

NAD(+) homeostasis in human health and disease

NAD(+)稳态在人类健康和疾病中的作用

Zapata-Pérez, Rubén; Wanders, Ronald J A; van Karnebeek, Clara D M; Houtkooper, Riekelt H

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

更正:由FAR1基因新生突变引起的常染色体显性遗传神经系统疾病,导致醚脂合成失控。

Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M