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

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

脉络膜和视网膜回旋状萎缩(GACR)的新见解:一项队列研究

Balfoort, Berith M; Van den Broeck, Filip; Boon, Camiel J F; Brouwers, Martijn C G J; Diederen, Roselie M H; Dhillon, Preet; van Hasselt, Peter M; Jaeger, Bregje; Karuntu, Jessica S; Rennings, Alexander J M; van Spronsen, Francjan J; Timmer, Corrie; Wagenmakers, Margreet A E M; De Zaeytijd, Julie; Leroy, Bart P; Schulze, Andreas; van Karnebeek, Clara D; Brands, Marion M

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

代谢治疗组学和先天性代谢缺陷知识库治疗工具:不要错过治疗机会!

den Hollander, Bibiche; Hoytema van Konijnenburg, Eva M M; Hewitson, Brittany; van der Meijden, Jan C; Balfoort, Berith M; Winter, Brad; Müller, Annelieke R; Wasserman, Wyeth W; Ferreira, Carlos R; van Karnebeek, Clara D

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

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models

代谢性心肌病:利用人类干细胞衍生模型揭示临床异质性

Passadouro, Adriana S; Balfoort, Berith M; Langeveld, Mirjam; van Karnebeek, Clara D M; van der Velden, Jolanda; Houtkooper, Riekelt H; Mosegaard, Signe

Vision on gyrate atrophy: why treat the eye?

回旋状萎缩症患者的视力:为什么要治疗眼睛?

Bergen, Arthur A; Buijs, Mark Jn; Ten Asbroek, Anneloor Lma; Balfoort, Berith M; Boon, Camiel Jf; Brands, Marion M; Wanders, Ronald Ja; van Karnebeek, Clara Dm; Houtkooper, Riekelt H

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)

一项针对 19 名脉络膜和视网膜回旋状萎缩 (GACR) 患者的队列研究

Balfoort, Berith M; Van Den Broeck, Filip; Brands, Marion M; van Karnebeek, Clara D; Bergen, Arthur A; van den Born, L Ingeborgh; Houtkooper, Riekelt H; Wagenmakers, Margreet A E M; De Zaeytijd, Julie; Leroy, Bart P; Boon, Camiel J F; Diederen, Roselie M H