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

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data

利用新生儿筛查分析物数据直接预测VLCADD的严重程度

Schwantje, Marit; Maase, Rose E; Dekkers, Eugenie; Ferdinandusse, Sacha; Vaz, Frédéric M; Hörster, Friederieke; Mütze, Ulrike; Grünert, Sarah C; Visser, Gepke; Velden, Monique G M De Sain-van der; Fuchs, Sabine A

Disorders of fatty acid homeostasis

脂肪酸稳态紊乱

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

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

磷酸羟戊酸激酶缺乏症扩大了系统性自身炎症性疾病的遗传谱。

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

由 PEX14 基因新生变异引起的常染色体显性泽尔韦格综合征

Hans R Waterham, Janet Koster, Merel S Ebberink, Pavel Ješina, Jiri Zeman, Lenka Nosková, Stanislav Kmoch, Perrine Devic, David Cheillan, Ronald J A Wanders, Sacha Ferdinandusse

Sex-specific newborn screening for X-linked adrenoleukodystrophy

针对X连锁肾上腺脑白质营养不良症的性别特异性新生儿筛查

Albersen, Monique; van der Beek, Samantha L; Dijkstra, Inge M E; Alders, Mariëlle; Barendsen, Rinse W; Bliek, Jet; Boelen, Anita; Ebberink, Merel S; Ferdinandusse, Sacha; Goorden, Susan M I; Heijboer, Annemieke C; Jansen, Mandy; Jaspers, Yorrick R J; Metgod, Ingrid; Salomons, Gajja S; Vaz, Frédéric M; Verschoof-Puite, Rendelien K; Visser, Wouter F; Dekkers, Eugènie; Engelen, Marc; Kemp, Stephan

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

新生儿原发性肉碱缺乏症筛查:哪些人将受益?——一项回顾性队列研究

Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N; Dekkers, Eugènie; Fuchs, Sabine A; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J; Vaz, Frédéric Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

肾上腺脑白质营养不良症患者诊断和治疗的国际建议:基于共识的方法

Engelen, Marc; van Ballegoij, Wouter J C; Mallack, Eric James; Van Haren, Keith P; Köhler, Wolfgang; Salsano, Ettore; van Trotsenburg, A S P; Mochel, Fanny; Sevin, Caroline; Regelmann, Molly O; Tritos, Nicholas A; Halper, Alyssa; Lachmann, Robin H; Davison, James; Raymond, Gerald V; Lund, Troy C; Orchard, Paul J; Kuehl, Joern-Sven; Lindemans, Caroline A; Caruso, Paul; Turk, Bela Rui; Moser, Ann B; Vaz, Frédéric M; Ferdinandusse, Sacha; Kemp, Stephan; Fatemi, Ali; Eichler, Florian S; Huffnagel, Irene C

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

表现为发作性肌病的热敏性线粒体三功能蛋白缺乏症

Marit Schwantje, Merel S Ebberink, Mirjam Doolaard, Jos P N Ruiter, Sabine A Fuchs, Niklas Darin, Carola Hedberg-Oldfors, Luc Régal, Laura Donker Kaat, Hidde H Huidekoper, Simon Olpin, Duncan Cole, Stuart J Moat, Gepke Visser, Sacha Ferdinandusse

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

原发性肉碱缺乏症的临床特征:采用病例分析方法进行结构化综述

Crefcoeur, Loek L; Visser, Gepke; Ferdinandusse, Sacha; Wijburg, Frits A; Langeveld, Mirjam; Sjouke, Barbara

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