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Article

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.

Ukrainian biochemical journal - 1 Jan 2000

Olkhovych N V, Gorovenko N G

Abstract excerpt

The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activity in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in case of its combination with pathology of another origin. Pseudodeficiency is mostly caused by some non-pathogenic changes in the corresponding gene. These changes lead...

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Source

Identifiers

PMID: 29235819
DOI: 10.15407/ubj88.05.096

Genes

HEXA
IDUA
ARSA
GAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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