Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote

Serum N-acetyl-beta-D-hexosaminidase is compared quantitatively and qualitatively in 14 obligate heterozygotes for the mutant gene causing I cell disease (ICD) or mucolipidosis II and in 31 normal controls. The average specific activity in either group is significantly different but reliable heteroz...

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Bibliographic Details

Published in:	Human genetics Vol. 31; no. 1; pp. 75 - 81
Main Authors:	Van Elsen, A F, Leroy, J G, VanneuvilleFJ, Vercruyssen, A L
Format:	Journal Article
Language:	English
Published:	Germany 28-01-1976
Subjects:	Acetylglucosaminidase - blood Clinical Enzyme Tests Drug Stability Heterozygote Hexosaminidases - blood Homozygote Hot Temperature Humans Inclusion Bodies Isoenzymes - blood Lipidoses - diagnosis Lipidoses - genetics
Online Access:	Get full text
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