国际口腔医学杂志Issue(5)：581-583,3.DOI:10.3969/j.issn.1673-5749.2011.05.023
低碱性磷酸酯酶症及其在口腔中的表现
Research progress on hypophosphatasia in the oral cavity
孙营营1
作者信息
- 1. 吉林大学口腔医院牙周科 长春130021
- 折叠
摘要
Abstract
Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase (ALP) activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. The diagnosis is based on DNA sequencing of the ALP gene. In recent years, the research direction included tissue nonspecific alkaline phosphatase and its function of bone mineralization, the function of gene mutations in HP, the effects of HP's treatment.关键词
低碱性磷酸酯酶症/碱性磷酸酶/碱性磷酸酯酶基因/突变Key words
hypophosphatasia/alkaline phosphatase/alkaline phosphatase gene/mutations分类
医药卫生引用本文复制引用
孙营营..低碱性磷酸酯酶症及其在口腔中的表现[J].国际口腔医学杂志,2011,(5):581-583,3.
