Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture.
Skin fibroblasts from three patients with Hurler's syndrome were grown in tissue culture and shown to contain metachromatic granules when stained for mucopolysaccharides with toluidine blue O. Similar inclusions were observed in cultures of fibroblasts from other members of the families, who appeared to be clinically normal but who were, judged from studies of pedigree, heterozygous or hemizygous for the abnormal gene.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D046508:Culture Techniques; D005347:Fibroblasts / Q000473:pathology*; D005826:Genetics, Medical; D006651:Histocytochemistry; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000235:genetics* / Q000378:metabolism*; D012867:Skin / Q000166:cytology* / Q000378:metabolism* / Q000473:pathology*