Danes B S, Bearn A G
Proc Natl Acad Sci U S A. 1970 Sep;67(1):357-64. doi: 10.1073/pnas.67.1.357.
Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of the polyanionic glycosaminoglycans (mucopolysaccharides); histochemical staining with the cationic dyes toluidine blue O and Alcian blue detects such intracellular accumulation. With these stains as phenotypic markers, correction of the cellular abnormality by fibroblasts derived from different patients and their heterozygous parents has been observed among several genetic types of mucopolysaccharidoses. In this way, syndromes previously considered clinically homogeneous have been separated into distinct groups.
来自遗传性黏多糖贮积症患者的培养成纤维细胞会储存高于正常水平的聚阴离子糖胺聚糖（黏多糖）；用阳离子染料甲苯胺蓝O和阿尔辛蓝进行组织化学染色可检测到这种细胞内蓄积。以这些染色作为表型标志物，在几种遗传性黏多糖贮积症类型中，已观察到来自不同患者及其杂合子父母的成纤维细胞可纠正细胞异常。通过这种方式，先前临床上被认为是同质的综合征已被分为不同的组。
