ENIGMA OF GALACTOSEMIA: SEARCHING FOR ANSWERS

经典的半乳糖血症未能充分治疗的饮食 限制半乳糖与弹性蛋白长期严重并发症。 我们现在面临的挑战是了解这种神秘的疾病， 如何为受影响的患者提供充分治疗的困境。 这项建议包括对基本的生物技术进行广泛的研究， 缺乏维生素C的患者的生化和遗传异常 半乳糖-1-磷酸尿苷酰转移酶。 它提出了一个协调一致的努力， 结合基础和临床研究。 它展现了 新技术和实验方法的应用。 它响应 一项针对积极研究工作的任务， 半乳糖血症的病理生物化学和分子遗传学基础， 利用这些结果来开发新的治疗策略。 回答： 半乳糖血症之谜该计划由四个项目组成， 两个核心。

Classic galactosemia has failed to be adequately treated by dietary restrictions of galactose with resiling long-term serious complications. We are now challenged to understand this enigmatic disorder and to solve the dilemma of how to adequately provide therapy for affected patients. This proposal encompasses a broad spectrum of research into the basic biochemical and genetic abnormalities in patients with deficiency of galactose-1-phosphate uridyltransferase. It presents a concerted effort to wed both basic and clinical investigation. It presents the potential for application of new techniques and experimental approaches. It responds to a mandate for targeting a vigorous research effort to understand the pathobiochemistry and molecular genetic basis for galactosemia and to utilize the results to develop new therapeutic strategies. To answer athe enigma of galactosemia the program consists for four projects supported by two cores.