Third International Scientific Workshop on Glycoproteinoses

描述(申请人提供)：糖蛋白储存障碍是一种遗传性代谢疾病，会导致智力和体力的进行性下降，并导致过早死亡。这些疾病是天冬氨酸氨基葡萄糖尿症、岩藻糖苷沉着症、半乳糖苷沉着症、α-甘露糖苷沉着症、β-甘露糖苷沉着症、粘脂病II、粘脂IIII、辛德勒病和唾液酸中毒。这些疾病既不有名也不臭名昭著。他们在患者支持小组、医学文献中的病例报告以及基础和翻译研究中的集体和个人代表性不足。第三届糖蛋白增多症国际研讨会科学会议的一个目标是汇聚来自不同领域的研究这些疾病的专家。溶酶体疾病的研究不再是酶学家的职权范围。研究阿尔茨海默病相关神经退行性变的遗传学家，对斑马鱼软骨发育感兴趣的糖生物学家，以及研究蛋白质组学的药理学家，都是溶酶体疾病研究人员。他们不太可能在另一次科学会议上相遇。虽然包括溶酶体疾病在内的代谢性疾病是各种国内和国际会议的讨论主题，但只有糖蛋白增多症国际研讨会专门讨论这些疾病。

DESCRIPTION (provided by applicant): The glycoprotein storage disorders are inherited metabolic conditions that cause progressive decline in mental and physical abilities and lead to early death. The diseases are aspartylglucosaminuria, fucosidosis, galactosialidosis, alphamannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis IIII, Schindler disease, and sialidosis. These diseases are neither famous nor infamous. They are collectively and individually underrepresented in patient support groups, case reports in the medical literature, and in basic and translational research. A goal of the Third International Workshop of Glycoproteinoses scientific meeting is to bring together experts who approach these conditions from different fields. Lysosomal disease research is no longer the purview of enzymologists. The geneticist who studies the neurodegeneration associated with Alzheimer's disease, the glycobiologist interested in cartilage development in zebrafish, and the pharmacologist who studies proteomics are all lysosomal disease researchers. They are unlikely to cross paths at another scientific meeting. Although metabolic diseases, including lysosomal disorders, are topics of discussion at variety of national and international meetings, only the International Workshop on Glycoproteinoses is dedicated to these disorders.