Carrier detection for Sanfilippo A syndrome
- 1 March 1990
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (2) , 184-186
- https://doi.org/10.1007/bf01799684
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°C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.Keywords
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