Carrier detection for Sanfilippo A syndrome.
In Sanfillipo A families, sulphamidase activities in leukocytes and cultured fibroblasts determined at 55 degrees C distinguish between heterozygote-carriers, normal individuals and the homozygotes.
D006580:Genetic Carrier Screening; D006801:Humans; D006867:Hydrolases / Q000032:analysis*; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000235:genetics*
D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase