Харвестер відкритої науки НАН України

The dup 24-bp duplication in chitotriosidase gene CHIT1 in healthy persons and in patients with Gaucher disease in Ukraine

von N. V. Olkhovych
Veröffentlicht 2015

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases

von N. V. Olkhovych
Veröffentlicht 2016

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

von N. V. Olkhovych, N. G. Gorovenko
Veröffentlicht 2016

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
Veröffentlicht 2018

Optimization of biochemical and molecular-genetic diagnostics of mucopolysaccharidosis type I in Ukraine

von N. S. Trofimova, N. V. Olkhovych, N. H. Horovenko
Veröffentlicht 2014

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
Veröffentlicht 2015

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
Veröffentlicht 2015

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
Veröffentlicht 2017