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Four sanfilippo C patients in a family pedigree

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Journal of Inherited Metabolic Disease

Abstract

The deficiency of acetyl-CoA:α-glucosaminideN-acetyltransferase was detected in skin fibroblast homogenates from four patients in a family pedigree. Further, it was observed that the relative proportion of the acetyl groups in heparan sulphate from a Sanfilippo C patient was much lower than those obtained from Sanfilippo A and B patients.

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References

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Authors and Affiliations

  1. Department of Pediatrics, University of Gifu, Japan

    T. Orii, T. Taga & K. Sukegawa

  2. Department of Pediatrics, Okinawa Central Hospital, Okinawa, Japan

    E. Tamanawa

Authors
  1. T. Orii
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  2. T. Taga
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  3. K. Sukegawa
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  4. E. Tamanawa
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Orii, T., Taga, T., Sukegawa, K. et al. Four sanfilippo C patients in a family pedigree. J Inherit Metab Dis 4, 117–118 (1981). https://doi.org/10.1007/BF02263618

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  • DOI: https://doi.org/10.1007/BF02263618

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