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Carrier detection for Sanfilippo A syndrome.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 1990; Vol. 13 (2), pp. 184-6. - Publication Year :
- 1990
-
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.
Details
- Language :
- English
- ISSN :
- 0141-8955
- Volume :
- 13
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 2116549
- Full Text :
- https://doi.org/10.1007/BF01799684