The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease
- 1 September 1978
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 1 (3) , 115-118
- https://doi.org/10.1007/bf01805686
Abstract
Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2‐hexadecanoylamino‐4‐nitrophenyl‐β‐D‐galactopyranoside. The relative merits of the three diagnostic methods are discussed.Keywords
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