Expanding treatments for the mucopolysaccharidoses-a family of genetic disorders-place unprecedented demands for accurate, timely diagnosis because best outcomes are seen with early initiation of appropriate therapies. Here we sought to improve the diagnostic odyssey by measuring specific glycosaminoglycan fragments with terminal residues complicit with the genetic defect resulting in precise diagnosis rather than the usual first-line, ambiguous total glycosaminoglycan determinations that return poor diagnostic yield.

中文翻译：

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疾病和亚型特异性特征能够精确诊断粘多糖贮积症。

扩大对粘多糖贮积症（一种遗传性疾病家族）的治疗对准确、及时的诊断提出了前所未有的要求，因为早期开始适当的治疗可以看到最好的结果。在这里，我们试图通过测量具有与遗传缺陷共谋的末端残基的特定糖胺聚糖片段来改进诊断奥德赛，从而导致精确诊断，而不是通常的一线、模棱两可的总糖胺聚糖测定，从而导致低诊断率。