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Prenatal diagnosis of GM1-gangliosidosis: Biochemical manifestations in fetal tissues

✍ Scribed by T. Kudoh; K. Kikuchi; F. Nakamura; S. Yokoyama; K. Karube; S. Tsugawa; R. Minami; T. Nakao

Publisher: Springer
Year: 1978
Tongue: English
Weight: 357 KB
Volume: 44
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00394293

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✦ Synopsis

A prenatal diagnosis of GMl-gangliosidosis was made in a pregnancy at risk, on the basis of a deficiency offl-galactosidase activity demonstrated in cultured amniotic fluid cells. Biochemical analyses were performed in the aborted fetus. GMl-ganglioside fl-galactosidase activity was reduced to 1% of the control value in both the brain and liver of the affected fetus. Lamellar bodies suggestive of membranous cytoplasmic bodies were found in cells of basal ganglions, while the accumulation of GMl-ganglioside in the brain was not remarkable.

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✍ W. J. Kleijer; E. Veer; M. F. Niermeijer 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 477 KB

Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. Beta-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10--30 freeze-dried cell