title: Carrier detection for Sanfilippo A syndrome.
abstract: Leukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1) at 55 degrees C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.
authors.affiliation: Department of Paediatric Chemical Pathology, Bristol Maternity Hospital, UK.
authors.forename: J
authors.initials: J
authors.lastname: Stone
authors.forename: A
authors.initials: A
authors.lastname: Brimble
authors.forename: C A
authors.initials: CA
authors.lastname: Pennock
mesh_terms: D004796:Clinical Enzyme Tests / Q000379:methods*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006867:Hydrolases / Q000032:analysis*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008403:Mass Screening; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis*; D013696:Temperature; D006113:United Kingdom
chemical_list: D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase