Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases von N. V. Olkhovych

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The dup 24-bp duplication in chitotriosidase gene CHIT1 in healthy persons and in patients with Gaucher disease in Ukraine von N. V. Olkhovych

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Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine von N. V. Olkhovych, N. G. Gorovenko

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Determination of the reference values of amino acids and acylcarnitines level in the newborn dry blood spots in Ukraine von Yu. Barvinska, N. V. Olkhovych, N. H. Horovenko

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Optimization of biochemical and molecular-genetic diagnostics of mucopolysaccharidosis type I in Ukraine von N. S. Trofimova, N. V. Olkhovych, N. H. Horovenko

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Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides von N. Y. Mytsyk, N. V. Olkhovych, N. H. Horovenko

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Application of thin-layer chromatography of oligosaccharides for selective biochemical screening of lysosomal storage disorders von N. Y. Mytsyk, N. V. Olkhovych, N. H. Horovenko

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Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease von N. V. Olkhovych, A. M. Nedoboy, N. O. Pichkur, N. H. Gorovenko

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