Cerebroside β galactosidase activity was measured from cultured skin fibroblasts derived from three families with globoid cell (Krabbe's) leukodystrophy. Affected infants and heterozygotes are clearly separable from each other as well as from controls on the basis of cerebroside β galactosidase activity. The cerebroside β galactosidase activity in cultured midtrimester amniotic fluid cells is identical to that of control fibroblasts, thereby providing for reliable antenatal diagnosis of globoid cell (Krabbe's) leukodystrophy.
|Original language||English (US)|
|Number of pages||6|
|Journal||American journal of human genetics|
|State||Published - Dec 1 1973|
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