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Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991
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Article Abstract
We present a patient with adult-onset globoid cell leukodystrophy(GBL)who had almost complete deficiency of galactosytlceramide B-galactosidase.A brother of the index patient deteriorated neurologically and died at the age of 4,probably from the late-infantile form of the disease.In this family,two clinical types of GBL are probably different expressions of an identical genotype.
 
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electron microscopy
familial
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Krabbe's disease
leukodystrophy
MRI
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nerve biopsy
neuropathy
white matter disease

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