Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.

doi:10.1007/BF00926869

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Article

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.

Molecular and cellular biochemistry - 17 Feb 1993

Eto Y, Kawame H, Hasegawa Y, Ohashi T, Ida H, Tokoro T

Abstract excerpt

The characterization of mutations in Japanese patients with lipidosis, particularly in metachromatic leukodystrophy (MLD) and Gaucher disease has been studied in detail. Metachromatic leukodystrophy is characterized by an accumulation of sulfatide in nervous tissues and kidney due to a deficiency...

Topics

Adult
Alleles
Child
Gaucher Disease
Glucosylceramidase
Humans
Infant
Japan
Leukodystrophy, Metachromatic
Lipidoses
Mutation

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