https://scholars.lib.ntu.edu.tw/handle/123456789/636687
標題: | Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency | 作者: | Scharre, Svenja Posset, Roland Garbade, Sven F Gleich, Florian Seidl, Marie J Druck, Ann-Catrin Okun, Jürgen G Gropman, Andrea L Nagamani, Sandesh C S Hoffmann, Georg F Kölker, Stefan Zielonka, Matthias YIN-HSIU CHIEN |
公開日期: | 十一月-2022 | 卷: | 9 | 期: | 11 | 來源出版物: | Annals of clinical and translational neurology | 摘要: | Ornithine transcarbamylase deficiency (OTC-D) is an X-linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the prediction of the disease course at an early disease stage is very important to individually adjust therapies such as medical treatment or liver transplantation. In this translational study, we developed a severity-adjusted classification system based on in vitro residual enzymatic OTC activity. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636687 | ISSN: | 2328-9503 | DOI: | 10.1002/acn3.51668 |
顯示於: | 醫學系 |
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