Sphingolipidosis is a group of hereditary diseases characterised by the deficiency in enzymes responsible for catabolism of sphingolipids. 神经鞘脂病是一类神经鞘脂分解代谢障碍的遗传性疾病,酶学检测是确诊的一种主要手段。
The enzymic diagnosis of sphingolipidosis with cultured human skin fibroblast 神经鞘脂病的酶学诊断方法&用培养的人皮肤成纤维细胞检测