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Globoid cell leukodystrophy (Krabbe's disease): Metabolic studies with cultured fibroblasts

โœ Scribed by Harumi Tanaka; Kunihiko Suzuki


Book ID
118928880
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
719 KB
Volume
38
Category
Article
ISSN
0022-510X

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๐Ÿ“œ SIMILAR VOLUMES


Prenatal diagnosis of globoid cell leuko
โœ K. Harzer ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 177 KB

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