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Carrier detection for Sanfilippo A syndrome

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Journal of Inherited Metabolic Disease

Summary

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.

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Authors and Affiliations

  1. Department of Paediatric Chemical Pathology, Bristol Maternity Hospital, Southwell Street, BS2 8EG, Bristol, UK

    J. Stone, A. Brimble & C. A. Pennock

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  1. J. Stone
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  2. A. Brimble
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  3. C. A. Pennock
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Stone, J., Brimble, A. & Pennock, C.A. Carrier detection for Sanfilippo A syndrome. J Inherit Metab Dis 13, 184–186 (1990). https://doi.org/10.1007/BF01799684

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  • DOI: https://doi.org/10.1007/BF01799684

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