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A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis

โœ Scribed by Aynaci, Müjgan; Çakır, Ertugrul; Aynaci, Osman


Book ID
113036417
Publisher
Springer
Year
2002
Tongue
English
Weight
220 KB
Volume
18
Category
Article
ISSN
0256-7040

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๐Ÿ“œ SIMILAR VOLUMES


Prenatal diagnosis of mucolipidosis II (
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