Scheie and Hurler syndromes: apparent identity of the biochemical defect.
Fibroblasts cultured from the skin of Scheie and Hurler patients are deficient in the same specific factor required for normal mucopolysaccharide metabolism.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D008297:Male; D012867:Skin / Q000166:cytology; D013431:Sulfates / Q000378:metabolism; D013460:Sulfur Isotopes
D006025:Glycosaminoglycans; D013431:Sulfates; D013460:Sulfur Isotopes