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

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

评估尿液中6-氧代哌啶酸作为ALDH7A1缺乏症生物标志物的价值

Khalil, Youssef; Footitt, Emma; Vootukuri, Reddy; Wempe, Michael F; Coughlin, Curtis R 2nd; Batzios, Spyros; Wilson, Matthew P; Kožich, Viktor; Clayton, Peter T; Mills, Philippa B

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy

接受酶替代疗法治疗的CLN2-巴顿病患者运动障碍的演变

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A

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

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)

一项针对早期发病的 GM1 神经节苷脂沉积症、GM2 神经节苷脂沉积症或 2 型戈谢病儿科患者的自然史研究 (RETRIEVE)

Héron, Bénédicte; Batzios, Spyros; Mengel, Eugen; Giugliani, Roberto; Patterson, Marc; Gautschi, Matthias; Cornelisse, Peter; Trokan, Luba; Schwierin, Barbara; Rohrbach, Marianne

L-Dopa Might Be Insufficient to Suppress Development of Prolactinomas in Dihydropteridine Reductase-Deficiency Patients

左旋多巴可能不足以抑制二氢蝶啶还原酶缺乏症患者催乳素瘤的发生

Diaz-Moreno, Unai; Gan, Cheng Guang; Pujari, Divya; Gan, Hoong-Wei; Batzios, Spyros

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

一项针对B型圣菲利波综合征患者的脑室内注射替拉西尼酶α的I/II期研究

Muschol, Nicole; Koehn, Anja; von Cossel, Katharina; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; de Castro Lopez, Maria J; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J; Maricich, Stephen M; Kuca, Bernice; Kovalchin, Joseph; Zanelli, Eric

Neuroimaging Features of Biotinidase Deficiency

生物素酶缺乏症的神经影像学特征

Biswas, A; McNamara, C; Gowda, V K; Gala, F; Sudhakar, S; Sidpra, J; Vari, M S; Striano, P; Blaser, S; Severino, M; Batzios, S; Mankad, K

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

伴有智力低下综合征3型的高磷酸酶症:脑脊液异常及吡哆醇和亚叶酸的纠正

Messina, Martina; Manea, Emanuela; Cullup, Thomas; Tuschl, Karin; Batzios, Spyros

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

新发现的铜代谢紊乱是由高亲和力铜转运蛋白 CTR1 的变异引起的

Spyros Batzios, Galit Tal, Andrew T DiStasio, Yanyan Peng, Christiana Charalambous, Paola Nicolaides, Erik-Jan Kamsteeg, Stanley H Korman, Hanna Mandel, Peter J Steinbach, Ling Yi, Summer R Fair, Mark E Hester, Anthi Drousiotou, Stephen G Kaler1

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

一组精氨酸酶缺乏症患者的临床状况、生化特征和治疗方案。

Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M; Cortina-Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; Cleary, Maureen A; Footitt, Emma; Batzios, Spyros