Milla P J
Arch Dis Child. 1978 Jun;53(6):513-5. doi: 10.1136/adc.53.6.513.
A boy with fatal I-cell disease is reported. Defective ganglioside and glycoprotein metabolism is due to deficient neuraminidase activity.
报告了一名患有致命性I细胞病的男孩。神经节苷脂和糖蛋白代谢缺陷是由于神经氨酸酶活性不足所致。