Scardigli K, Koldovsky O, Palmieri M, Segal S, States B
Clin Chim Acta. 1977 Feb 15;75(1):13-20. doi: 10.1016/0009-8981(77)90495-8.
A study of the lysosomal hydrolases bete-galactosidase, beta-glucuronidase, N-acetyl-beta-D-glucosaminidase, and arylsulphatases A and B has been carried out on fibroblasts cultured from seven patients with cystinosis and eight control subjects. beta-Galactosidase activity was found to be consistently lower in cells derived from cystinotics, while the other enzymes studied showed no significant differences between normals and cystinotics.
对7名胱氨酸病患者和8名对照受试者培养的成纤维细胞进行了溶酶体水解酶β-半乳糖苷酶、β-葡萄糖醛酸酶、N-乙酰-β-D-氨基葡萄糖苷酶以及芳基硫酸酯酶A和B的研究。发现胱氨酸病患者来源的细胞中β-半乳糖苷酶活性一直较低,而所研究的其他酶在正常人和胱氨酸病患者之间未显示出显著差异。