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

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study

改善非洲罕见病诊断的可及性:一项多国试点研究的启示

Swanepoel, Albe Carina; Hendriksz, Christian Johannes; Mukhwana, Renson; Oduwole, Abiola; Abdalla, Asmahan T; Ameyaw, Emmanuel; Muze, Kandi-Catherine; Auruku, Andrew; Pinto, Felix; Joel, Dipesalema; Aleksovska, Vesna; Collin-Histed, Tanya; Odero, Roselyn; Conradie, Engela Helena

CarboTag: a modular approach for live and functional imaging of plant cell walls

CarboTag:一种用于植物细胞壁活体功能成像的模块化方法

Besten, Maarten; Hendriksz, Milan; Michels, Lucile; Charrier, Bénédicte; Smakowska-Luzan, Elwira; Weijers, Dolf; Borst, Jan Willem; Sprakel, Joris

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria

苯丙酮尿症患者单次口服工程化苯丙氨酸解氨酶的药效学、安全性、耐受性和药代动力学研究

Fazio, Timothy Nicholas; Healy, Louise; Heise, Tim; Inwood, Anita; Manolikos, Catherine; Rahman, Yusof; Woerle, Hans-Juergen; Hendriksz, Christian J

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations

两名患有岩藻糖苷贮积症的成年兄妹的长期预后——诊断历程和临床表现

Puente-Ruiz, Nuria; Ellis, Ian; Bregu, Marsel; Chen, Cliff; Church, Heather J; Tylee, Karen L; Gladston, Shalini; Hackett, Richard; Oldham, Andrew; Virk, Surinder; Hendriksz, Christian; Morris, Andrew A M; Jones, Simon A; Stepien, Karolina M

Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA

满足患者对易于理解的医疗沟通的需求:对2019年MPS VI和MPS IVA管理建议的调整

Bruce, Iain A; Ezgü, Fatih S; Kampmann, Christoph; Kenis, Vladimir; Mackenzie, William; Stevens, Bob; Walker, Robert; Hendriksz, Christian

MPS VII - Extending the classical phenotype

MPS VII - 扩展经典表型

Oldham, A; Oxborrow, N J; Woolfson, P; Jenkins, P; Gadepalli, C; Ashworth, J; Saxena, A; Rothera, M; Hendriksz, C J; Tol, G; Jovanovic, A

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

新生儿和婴儿遗传性胆汁淤积症的遗传学:不断变化的挑战

Jeyaraj, Rebecca; Bounford, Kirsten McKay; Ruth, Nicola; Lloyd, Carla; MacDonald, Fiona; Hendriksz, Christian J; Baumann, Ulrich; Gissen, Paul; Kelly, Deirdre

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

成人粘多糖贮积症(MPS)患者的危重临床情况

Stepien, Karolina M; Gevorkyan, Anait K; Hendriksz, Christian J; Lobzhanidze, Tinatin V; Pérez-López, Jordi; Tol, Govind; Del Toro Riera, Mireia; Vashakmadze, Nato D; Lampe, Christina

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

一名患有甘露糖磷酸异构酶先天性糖基化障碍的成年患者停止甘露糖治疗后的临床结果

Noman, Kinza; Hendriksz, Christian J; Radcliffe, Graham; Roncaroli, Federico; Moreea, Sulleman; Hussain, Afifah; Stepien, Karolina M

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase

以如厕能力调查作为认知功能的替代结果指标:接受艾杜硫酶和鞘内注射艾杜硫酶治疗的神经病变型粘多糖贮积症 II 型患者的研究结果

Hogan, Melissa J; Stephens, Kim; Smith, Erin; Jalazo, Elizabeth R; Hendriksz, Christian J; Edwards, Lloyd J; Bjoraker, Kendra J