Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

G, Dubois; K, Harzer; N, Baumann

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The American Journal of Human Genetics

Article . 1977

Data sources: Europe PubMed Central

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

descriptionPublicationkeyboard_double_arrow_right Article 20 May 1977 English Journal:American journal of human genetics, volume 29 (issn: 0002-9297,

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Authors: G, Dubois; K, Harzer; N, Baumann;

pmid: 15452

pmc: PMC1685259

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

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Abstract

Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.

Keywords

Male, Age Factors, Leukodystrophy, Metachromatic, Pedigree, Consanguinity, Leukocytes, Humans, Female, Sulfatases, Cerebroside-Sulfatase, Arylsulfatases

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