๐”– Bobbio Scriptorium
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Brain sphingolipids in I cell disease (mucolipidosis II)

โœ Scribed by G. Dacremont; J. A. Kint; G. Cocquyt


Book ID
111167628
Publisher
John Wiley and Sons
Year
1974
Tongue
English
Weight
261 KB
Volume
22
Category
Article
ISSN
0022-3042

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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