Charbonne F, Rousseau P, Malpuech G, Geneix A
Arch Fr Pediatr. 1980 Jan;37(1):51-3.
Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.
对一名经临床观察和己糖胺酶 A 缺乏症诊断为患泰-萨克斯病（GM2 神经节苷脂沉积症 B 型）的个体所培养的皮肤成纤维细胞进行的超微结构研究，揭示了几种层状溶酶体包涵体。在源自泰-萨克斯病杂合子个体的培养成纤维细胞和培养羊水细胞中未见到这些包涵体。培养正常细胞并进行观察以作比较。
