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[Differentiation between arylsulfatase A deficiency and pseudo-deficiency].

作者信息

Horovenko N H, Ol'khovych N V

机构信息

Department of Medical Genetics, Clinical Immunology & Allergology, Medical Academy of Postdiploma Education, Kyiv.

出版信息

Ukr Biokhim Zh (1999). 2003 Sep-Oct;75(5):106-11.

Abstract

Metachromatic leukodystrophy (MLD)--lysosomal storage disease caused arylsulfatase A (ARSA) deficiency. Biochemical diagnostic of MLD is complicated by arylsulfatase A pseudodeficiency. There is possibility of mistake in MLD diagnoses in case of pseudodeficiency ARSA and non-MLD neurological disease combination. We suggest the new modification of arylsulfatase A activity detection method which allows to identify the arylsulfatase A pseudodeficiency without molecular genetic methods.

摘要

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