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

Medial gastrocnemius and semitendinosus muscle growth in typically developing children: Longitudinal reference growth trajectories

正常发育儿童内侧腓肠肌和半腱肌的生长:纵向参考生长轨迹

Verreydt, Ineke; Vandekerckhove, Ines; Molenberghs, Geert; Dewit, Tijl; De Beukelaer, Nathalie; Hanssen, Britta; Rymen, Daisy; Ortibus, Els; Van Campenhout, Anja; Desloovere, Kaat

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

SLC35A2-CDG患者的糖鞘脂合成受损,补充半乳糖后可改善。

Jáñez Pedrayes, Andrea; De Craemer, Sam; Idkowiak, Jakub; Verdegem, Dries; Thiel, Christian; Barone, Rita; Serrano, Mercedes; Honzík, Tomáš; Morava, Eva; Vermeersch, Pieter; Foulquier, François; Morelle, Willy; Swinnen, Johannes V; Rymen, Daisy; Cassiman, David; Ghesquière, Bart; Witters, Peter

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients

二氢硫辛酰胺脱氢酶缺乏症(DLDD)肝型:52例患者的表型谱、实验室检查结果和治疗方法

Hammann, Nicole; Staufner, Christian; Schlieben, Lea Dewi; Dezsőfi-Gottl, Antal; Feichtinger, René G; Häberle, Johannes; Junge, Norman; Konstantopoulou, Vassiliki; Kopajtich, Robert; McLin, Valérie; Rymen, Daisy; Slavetinsky, Christoph; Sturm, Ekkehard; Mayr, Johannes A; Wagner, Matias; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg F; Lenz, Dominic

The use of protein supplements in children with cerebral palsy: A scoping literature review

脑瘫儿童蛋白质补充剂的使用:文献综述

Verreydt, Ineke; Ortibus, Els; Van Campenhout, Anja; Desloovere, Kaat; Rymen, Daisy

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature

先天性代谢缺陷中的肾上腺功能不全及其反之:病例报告和文献综述

De Preter, Ariane; Rochtus, Anne; Witters, Peter; Rymen, Daisy

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

假性常染色体糖基化障碍促使多萜醇生物合成途径发生改变

Matthew P Wilson,Takfarinas Kentache,Charlotte R Althoff,Céline Schulz,Geoffroy de Bettignies,Gisèle Mateu Cabrera,Loreta Cimbalistiene,Birute Burnyte,Grace Yoon,Gregory Costain,Sandrine Vuillaumier-Barrot,David Cheillan,Daisy Rymen,Lucie Rychtarova,Hana Hansikova,Marina Bury,Joseph P Dewulf,Francesco Caligiore,Jaak Jaeken,Vincent Cantagrel,Emile Van Schaftingen,Gert Matthijs,François Foulquier,Guido T Bommer

CLSY docking to Pol IV requires a conserved domain critical for small RNA biogenesis and transposon silencing

CLSY 与 Pol IV 对接需要一个对小 RNA 生物合成和转座子沉默至关重要的保守域

Luisa Felgines #, Bart Rymen #, Laura M Martins #, Guanghui Xu, Calvin Matteoli, Christophe Himber, Ming Zhou, Josh Eis, Ceyda Coruh, Marcel Böhrer, Lauriane Kuhn, Johana Chicher, Vijaya Pandey, Philippe Hammann, James Wohlschlegel, Florent Waltz, Julie A Law, Todd Blevins

Quality of life in children with erythropoietic protoporphyria: a case-control study

红细胞生成性原卟啉病患儿的生活质量:一项病例对照研究

Kluijver, Louisa G; Wensink, Debby; Wagenmakers, Margreet A E M; Huidekoper, Hidde H; Witters, Peter; Rymen, Daisy; Langendonk, Janneke G

Transposition of HOPPLA in siRNA-deficient plants suggests a limited effect of the environment on retrotransposon mobility in Brachypodium distachyon

HOPPLA 在 siRNA 缺陷植物中的转座表明环境对二穗短柄草中逆转座子移动性的影响有限

Michael Thieme, Nikolaos Minadakis, Christophe Himber, Bettina Keller, Wenbo Xu, Kinga Rutowicz, Calvin Matteoli, Marcel Böhrer, Bart Rymen, Debbie Laudencia-Chingcuanco, John P Vogel, Richard Sibout, Christoph Stritt, Todd Blevins, Anne C Roulin

A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference

一例尿黑酸症患者,表现为不明原因的尿布深色污渍,以及因尿黑酸干扰引起的假性高草酸尿和蛋白尿。

Vanhove, Thibault; Aertgeerts, Margo; Witters, Peter; Rymen, Daisy; Böckenhauer, Detlef; Frans, Glynis; Vermeersch, Pieter