Fetal globoid cell leukodystrophy in one of twins
โ Scribed by R. Okeda; Y. Suzuki; S. Horiguchi; T. Fujii
- Publisher
- Springer-Verlag
- Year
- 1979
- Tongue
- English
- Weight
- 844 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0001-6322
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๐ SIMILAR VOLUMES
Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of G
A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme act
Galactocerebrosidase (GALC) is a lysosomal b-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also call