Article
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.
Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2002
Harzer Klaus, Knoblich Rupert, Rolfs Arndt, Bauer Peter, Eggers Jürgen
Abstract excerpt
BACKGROUND: Krabbe disease (globoid-cell leukodystrophy; GLD) is caused by mutations in the GALC gene. Beta-galactocerebrosidase (GALC) is a specific beta-galactosidase which is defective in GLD. About 90% of GLD patients have an infantile course by fatal cerebral demyelination, but 10% have a later onset (LOGLD) of symptoms and survive for one or several decades. METHODS: Activities of GALC towards...
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