Koster J F, Busch H F, Slee R G, Van Weerden T W
Clin Chim Acta. 1978 Aug 1;87(3):451-3. doi: 10.1016/0009-8981(78)90191-2.
The concurrence of the infantile and adult form of acid maltase deficiency in one family is presented. The muscle of both cases possesses residual activity. The glycogen amount in the infantile form is increased tremendously, while in the late-onset the amount of glycogen is normal.
本文报道了一个家族中同时出现婴儿型和成人型酸性麦芽糖酶缺乏症的病例。两例患者的肌肉均有残余活性。婴儿型患者的糖原含量大幅增加,而成人迟发型患者的糖原含量正常。