Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

肉碱-酰基肉碱转位酶缺乏症伴严重低血糖和房室传导阻滞。透化成纤维细胞中的转位酶活性测定