Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00270402.pdf
Reference15 articles.
1. O'Brien, J. S., Okada, S., Chen, A., Fillerup, D. L.: Tay-Sachs disease: detection of heterozygotes and homozygotes by serum hexosaminidase assay. New Engl. J. Med. 283, 15?20 (1970)
2. Hickman, S., Neufeld, E. F.: A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem. biophys. Res. Commun. 49, 992?999 (1972)
3. Ikonne, J. V., Ellis, R. B.: N-acetyl-beta-D-hexosaminidase component A. Different forms in human tissues and fluids. Biochem. J. 135, 457?462 (1973)
4. Jones, D. D., Williams, G. F., Prochazka, B.: Source of the pregnancy serum N-acetyl-betaglucosaminidase isoenzyme during human pregnancy. Enzyme 20, 129?137 (1975)
5. Leroy, J. G., Spranger, J. W., Feingold, M., Opitz, J. M., Crocker, A. C.: I-cell disease: A clinical picture. J. Pediat. 79, 360?365 (1971)
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1. Chapter 1b Normal and pathological catabolism of glycoproteins;New Comprehensive Biochemistry;1996
2. Non-identity of human plasma lysozyme and 4-methylumbelliferyl-tetra-N-acetyl-β-d-chitotetraoside hydrolase;International Journal of Biochemistry;1988-01
3. In vitro expression of α-l-fucosidase activity polymorphism observed in plasma;Human Genetics;1983-09
4. I-cell disease and pseudo-Hurler polydystrophy;Genetic Errors of Glycoprotein Metabolism;1982
5. α-d-Mannosidases in serum of patients with I-cell disease (ICD);Clinica Chimica Acta;1981-05
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