Three children with progressive neurological disease are described in whom there was deficient galactocerebrosidase activity in white cells. Necropsy in one patient showed the neuropathological features of globoid cell leucodystrophy, and it is suggested that these patients suffered from a clinically and genetically distinct late form of Krabbe's disease.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1648137PMC
http://dx.doi.org/10.1136/adc.47.253.449DOI Listing

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