Durand P
Pediatr Med Chir. 1982 May-Jun;4(3):177-84.
This is a review article on glycoprotein storage diseases. In each of the separate diseases there is a relatively characteristic combination of clinical lesions, enzyme deficiency and storage of glycoconjugates which form the basis of classification. For most of these disorders, demonstration of the enzymatic deficiency has led to accurate diagnosis of affected individuals recognition of variant and atypical forms, detection of carriers and prenatal diagnosis of affected fetuses. The studies have proved to be informative as to: 1) Identification of previously unrecognized diseases. 2) Identification of the metabolic products of the mutant genes. 3) Classification within a group. 4) Demonstration of genetic principles.
这是一篇关于糖蛋白贮积病的综述文章。在每一种单独的疾病中，都存在临床病变、酶缺乏和糖缀合物贮积的相对特征性组合，这些构成了分类的基础。对于大多数这些疾病，酶缺乏的证明已导致对受影响个体的准确诊断、变异型和非典型形式的识别、携带者的检测以及受影响胎儿的产前诊断。这些研究已被证明在以下方面具有参考价值：1）识别先前未被认识的疾病。2）识别突变基因的代谢产物。3）在一组内进行分类。4）证明遗传原理。
