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Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Journal of Inherited Metabolic Disease|February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approachesBryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Cancer Immunology, Immunotherapy : CII|November 12, 2025
Combining molecular patterns and clinical data for better immune checkpoint inhibitor prediction in metastatic urothelial carcinomaM Váradi, O Horváth, E Soós, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Urology|December 3, 2024
Performance of Urinary Markers in Patients With Suspicious Cystoscopy During Follow-up of Recurrent Non-muscle Invasive Bladder Cancer: BTA Stat, NMP22 BladderChek, UBC Rapid Test, CancerCheck UBC Rapid VISUAL, and Uromonitor in Comparison to CytologyThorsten H Ecke, Christina J Meisl, Thorsten Schlomm, et al.
British Journal of Cancer|October 24, 2013
Allogeneic stem cell transplantation for patients with advanced rhabdomyosarcoma: a retrospective assessmentU Thiel, E Koscielniak, F Blaeschke, et al.
Nature Communications|March 9, 2017
MAX inactivation is an early event in GIST development that regulates p16 and cell proliferationInga-Marie Schaefer, Yuexiang Wang, Cher-Wei Liang, et al.
Urologic Oncology|July 5, 2023
BTA stat®, NMP22® BladderChek®, UBC® Rapid Test, and CancerCheck® UBC® rapid VISUAL as urinary marker for bladder cancer: Final results of a German multicenter studyThorsten H Ecke, Christina J Meisl, Thorsten Schlomm, et al.
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