Abstract

AbstractThe 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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