Challenge of phenotype estimation for optimal treatment of Krabbe disease.

Abstract excerpt

Krabbe disease is an autosomal recessive, inherited demyelinating disease caused by deficiency of the lysosomal enzyme galactocerebrosidase. It is recognized as one of the predominant genetic diseases showing leukodystrophy from infancy to adulthood. The clinical phenotype and genotype for this disease show considerable variation worldwide, which makes accurate diagnosis difficult. Effective therapy is limited,...

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