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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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