Enzymatic findings in a case of type II mucolipidosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799817
Reference5 articles.
1. Hasilik, A., Waheed, A. and Von Figura, K. Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts.Biochem. Biophys. Res. Commun. 98 (1981) 761–767
2. Leroy, J. C. and O'Brien, J. S. Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts.Clin. Genet. 9 (1976) 533–539
3. Miller, A. I-cell disease: properties of human liver acid β-d-galactosidases.Biochim. Biophys. Acta 522 (1978) 174–186
4. Miller, A., Levitt, P., Ingraham, H., Converse, J. and Lewis, L. Properties of acid β-d-galactosidase isolated from I-cell disease brain and spleen.J. Neurochem, 32 (1979) 1479–1485
5. Reitman, M. L., Varki, A. and Kornfeld, S. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine-5′-diphosphateN-acetyl glycoproteinN-acetylglucosaminylphosphotransferase activity.J. Clin. Invest. 67 (1981) 1574–1579
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1. Workshop on Human Genetics Problems in the Third World;Human Genetics;1987
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