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Heterogeneity in mucolipidosis II (l-cell disease)

โœ Scribed by Shintaro Okada; Tomochika Kato; Toshio Oshima; Tohru Yutaka; Hyakuji Yabuuchi


Book ID
119839465
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
399 KB
Volume
23
Category
Article
ISSN
0009-9163

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๐Ÿ“œ SIMILAR VOLUMES


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A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled gl

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Isozymes of N-acetyl-beta-D-hexosaminidase in body fluids, culture medium, postmortem organs, and cultured fibroblasts from patients with I-cell disease were resolved by ion exchange column chromatography. The elution pattern was compared in detail with that of the isozymes in control samples. This