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Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis

โœ Scribed by J.A. Hochman; W.R. Treem; F. Dougherty; R.C. Bentley

Book ID
110313100
Publisher
Springer
Year
2001
Tongue
English
Weight
37 KB
Volume
24
Category
Article
ISSN
0141-8955

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๐Ÿ“œ SIMILAR VOLUMES

Prenatal diagnosis of mucolipidosis II (
Prenatal diagnosis of mucolipidosis II (I-cell disease)
โœ J. Gehler; M. Cantz; M. Stoeckenius; J. Spranger ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 371 KB

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