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Prenatal diagnosis of mucolipidosis II (I-cell disease)

✍ Scribed by J. Gehler; M. Cantz; M. Stoeckenius; J. Spranger

Book ID
104780826
Publisher
Springer
Year
1976
Tongue
English
Weight
371 KB
Volume
122
Category
Article
ISSN
0340-6997

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✦ Synopsis

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 glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of I-cell disease
Prenatal diagnosis of I-cell disease
✍ Matsuda, Ichiro ;Arashima, Shinichiro ;Mitsuyama, Takashi ;Oka, Yogo ;Ikeuchi, T πŸ“‚ Article πŸ“… 1975 πŸ› Springer-Verlag βš– 392 KB

A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in amniotic fluid and were reduced in cultivated amni