Totani L, Donati M B
Istituto di Ricerche Farmacologiche Mario Negri, S. Maria Imbaro, Italia.
Haemostasis. 1989;19 Suppl 1:45-7. doi: 10.1159/000216095.
The Italian National Research Council (CNR) has launched a special project aiming at gathering competences on rare diseases, their pathogenesis and their possible pharmacological management. The subproject on homocystinuria has three main objectives: to establish the prevalence and incidence of the disease in the Italian population, to develop sensitive assays of sulfated amino acids which allow discrimination of heterozygotes from normal subjects and to better define the complex interactions between homocystinuria and vascular complications.
意大利国家研究委员会(CNR)发起了一个特别项目,旨在收集有关罕见疾病、其发病机制及其可能的药物治疗方面的专业知识。关于同型胱氨酸尿症的子项目有三个主要目标:确定该疾病在意大利人群中的患病率和发病率,开发能够区分杂合子与正常受试者的硫酸化氨基酸敏感检测方法,以及更好地界定同型胱氨酸尿症与血管并发症之间的复杂相互作用。