The mucopolysaccharidoses.
The mucopolysaccharidoses.
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粘多糖贮积症。
DOI：
10.1136/jmg.13.3.169
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发表时间：
1976
影响因子：
4
通讯作者：
I. C. Barnes
中科院分区：
文献类型：
--
作者：
C. Pennock;I. C. Barnes
被称为粘多糖沉积症的一组遗传性疾病，其中赫尔勒综合征是最著名的例子，已经由McKusick在1965年和1969年进行了专业审查和分类，并在1972年重新分类。最新的分类（表I）是由Neufeld及其同事在研究粘多糖沉积症的基本生化缺陷时对皮肤成纤维细胞的观察结果得出的。由于这项工作以及其他小组的研究，表I中所示的所有疾病中的实际酶缺陷都已被确定，这使得这些疾病的产前诊断成为真实的可能性。以下各段将回顾过去四年中出现的这些令人振奋的发展。
The group of inherited disorders referred to as the mucopolysaccharidoses, of which Hurler's syndrome is the best known example, have been expertly reviewed and classified by McKusick in 1965, 1969, and reclassified in 1972. The most recent classification (Table I) resulted from observations on skin fibroblasts made by Neufeld and her colleagues during their studies on the basic biochemical defects in the mucopolysaccharidoses. As a result of this work, and research by other groups, the actual enzyme defects in all the conditions shown in Table I have been identified, and this has made the antenatal diagnosis of these disorders a real possibility. These exciting developments which have occurred during the past four years are reviewed in the following paragraphs.