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. 1978 Jan;41(1):76–82. doi: 10.1136/jnnp.41.1.76

Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.

D F Farrell, S M Sumi, C R Scott, G Rice
PMCID: PMC492965  PMID: 621534

Abstract

Galactosylceramide beta-galactosidase activity was assayed in cultured amniotic fluid cells from two pregnancies at risk for Krabbe's leucodystrophy. The elective termination of one pregnancy was carried out after demonstration of a severe deficiency of galactosylceramide beta-galactosidase activity. The diagnosis of Krabbe's leucodystrophy in the affected fetus was confirmed enzymatically by a deficiency of galactosylceramide beta-galactosidase inbrain, liver, kidney, and cultured skin fibroblasts, and histologically by the ultrastructural demonstration of the typical intracellular inclusions in cells of the spinal cord.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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