Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):33-39. doi: 10.1016/j.ymgme.2022.07.005. Epub 2022 Jul 9.
Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions relating to outcomes, mechanism, and markers, drawing on relevant literature where available, attempting to navigate inconsistencies where they appear, and acknowledging gaps in knowledge where they persist.
尽管在经典半乳糖血症（CG）的研究中涉及到人类受试者和模型系统已经有几十年了，但长期并发症的潜在病理生理学仍然知之甚少。在这篇综述中，我们针对已经熟悉半乳糖血症的读者，重点关注与结局、机制和标志物相关的大问题，在可能的情况下参考相关文献，尝试在出现不一致的地方进行导航，并承认在知识的空白仍然存在的地方。
