Carrier detection in Sanfilippo A syndrome.
Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N-sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members gave decreased values and are presumed heterozygotes.
D005347:Fibroblasts / Q000201:enzymology; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D006867:Hydrolases / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000097:blood / Q000235:genetics*
D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase