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

Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity

单中心回顾性研究尿素循环障碍患儿血浆支链氨基酸水平:治疗方式和疾病严重程度的影响

Yeo, Mildrid; Rehsi, Preeya; Yeo, Jie Ming; Dixon, Marjorie; Chakrapani, Anupam

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

运动障碍的发生率随年龄增长而增加,这与精氨酸琥珀酸尿症中轻微且有限的神经影像学异常形成对比。

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Alrashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G V; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease

导致新生儿线粒体疾病的新型 FARS2 变异的临床和分子特征

Wenqian Chen, Preeya Rehsi, Kyle Thompson, Mildrid Yeo, Karen Stals, Langping He, Paul Schimmel, Zofia M A Chrzanowska-Lightowlers, Emma Wakeling, Robert W Taylor, Bernhard Kuhle

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

鸟氨酸转氨甲酰酶缺乏症患者的肝移植:一项回顾性多中心队列研究

Seker Yilmaz, Berna; Baruteau, Julien; Chakrapani, Anupam; Champion, Michael; Chronopoulou, Efstathia; Claridge, Lee C; Daly, Anne; Davies, Catherine; Davison, James; Dhawan, Anil; Grunewald, Stephanie; Gupte, Girish L; Heaton, Nigel; Lemonde, Hugh; McKiernan, Pat; Mills, Philippa; Morris, Andrew A M; Mundy, Helen; Pierre, Germaine; Rajwal, Sanjay; Sivananthan, Siyamini; Sreekantam, Srividya; Stepien, Karolina M; Vara, Roshni; Yeo, Mildrid; Gissen, Paul

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

英国一家儿科中心对20例尿素循环障碍患者使用苯丁酸甘油酯的临床经验

Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie

Collaborative learning in small groups in an online course - a case study

在线课程中小组协作学习——案例研究

Haugland, Mildrid Jorunn; Rosenberg, Ivar; Aasekjær, Katrine

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

对于患有尿素循环障碍的儿童,可直接用苯丁酸甘油酯替代口服苯甲酸钠。

Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie

What are the information needs of parents caring for a child with Glutaric aciduria type 1?

照顾患有1型戊二酸尿症儿童的家长有哪些信息需求?

Piercy, Hilary; Yeo, Mildrid; Yap, Sufin; Hart, Anthony R

An Aristotelian view of therapists' practice in multifamily therapy for young adults with severe eating disorders

从亚里士多德的视角探讨治疗师在针对患有严重饮食障碍的年轻人的多家庭治疗中的实践

Brinchmann, Berit Støre; Moe, Cathrine; Valvik, Mildrid Elisabeth; Balmbra, Steven; Lyngmo, Siri; Skarbø, Tove