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本文报道首次合成了用于检测溶酶体半乳糖-G-硫酸酯酶(Gal-6S)活性的荧光底物,简化了Morquio A综合征的诊断和产前诊断程序。首次应用这一方法进行疾病诊断获得了成功。
This paper reports the first synthesis of a fluorescent substrate for the detection of lysosomal Gal-6S activity, simplifying the diagnosis and prenatal diagnosis of Morquio A syndrome. The first successful application of this method for disease diagnosis.