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本文报道3例(2个家系)婴幼型异染性脑白质病。采用芳基硫酸酯酶A过筛试验及白细胞芳基硫酸酯酶A测定确诊2个家系皆有遗传性芳基硫酸酯酶缺乏,父母为杂合子。
This article reports 3 cases (2 pedigrees) infants with idiopathic leukoencephalopathy. Arylsulfatase A screening test and white blood cell Arylsulfatase A assay confirmed the two families have inherited arylsulfatase deficiency, the parents of heterozygotes.