JUVENILE SANDHOFF DISEASE - SOME PROPERTIES OF RESIDUAL HEXOSAMINIDASE IN CULTURED FIBROBLASTS
- 1 January 1976
- journal article
- research article
- Vol. 28 (5) , 489-495
Abstract
The residual hexosaminidase isozymes (hex) in juvenile Sandhoff and infantile Sandhoff disease fibroblasts, were determined by starch gel electrophoresis and column isoelectric focusing. Hex A and hex S are the major residual isozymes in fibroblasts from the juvenile patient, while hex B is barely detectable. Only hex S could be detected in fibroblasts from infantile Sandhoff patients. The defects in juvenile and infantile Sandhoff disease may be different allelic modifications of the .beta. subunit common to hex A and hex B.This publication has 15 references indexed in Scilit:
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