Olkhovych N - Search Results

1

Regulatory landscape of providing information on newborn screening to parents across Europe.

Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Among authors: olkhovych n. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.

2

Universal newborn screening for spinal muscular atrophy in Ukraine.

Olkhovych N, Gorovenko N, Servais L. Olkhovych N, et al. Lancet. 2023 Jul 22;402(10398):288-289. doi: 10.1016/S0140-6736(23)01281-3. Lancet. 2023. PMID: 37481267 No abstract available.

3

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

Olkhovych NV, Gorovenko NG. Olkhovych NV, et al. Ukr Biochem J. 2016 Sep-Oct;88(5):96-106. doi: 10.15407/ubj88.05.096. Ukr Biochem J. 2016. PMID: 29235819

4

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

Olkhovych NV. Olkhovych NV. Ukr Biochem J. 2016 Jan-Feb;88(1):69-78. doi: 10.15407/ubj88.01.069. Ukr Biochem J. 2016. PMID: 29227082

5

[DIFFERENTIATION OF NORM AND PATHOLOGY DURING SELECTIVE BIOCHEMICAL SKREENING OF LYSOSOMAL STORAGE DISEASES WITH INCREASED EXCRETION OF OLIGOSACCHARIDES].

Mytsyk NY, Olkhovych NV, Gorovenko NG. Mytsyk NY, et al. Among authors: olkhovych nv. Ukr Biochem J. 2015 May-Jun;87(3):107-15. doi: 10.15407/ubj87.03.107. Ukr Biochem J. 2015. PMID: 26502705 Ukrainian.

6

[Cliniko-laboratory indicators of efficiency fermento-substitution therapy of Gaucher disease in Ukraine].

Ol'khovych NV, Gryshchenko OM, Pichkur NO, Nedoboĭ AM, Trofimova NS, Ivanova TP, Gorovenko NG. Ol'khovych NV, et al. Lik Sprava. 2011 Jan-Mar;(1-2):95-104. Lik Sprava. 2011. PMID: 21954642 Ukrainian.

7

[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].

Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO. Horovenko NH, et al. Tsitol Genet. 2007 Jul-Aug;41(4):41-7. Tsitol Genet. 2007. PMID: 18030725 Ukrainian.

8

[The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].

Horovenko NH, Drozdova VD, Nedoboĭ AM, Ol'khovych NV, Pichkur NO, Tsyhankova MA, Radzikhovs'ka OV. Horovenko NH, et al. Tsitol Genet. 2006 May-Jun;40(3):67-71. Tsitol Genet. 2006. PMID: 16933855 Ukrainian.

9

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.

Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556

10

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

Horovenko NH, Ol'khovych NV. Horovenko NH, et al. Ukr Biokhim Zh (1999). 2003 Sep-Oct;75(5):106-11. Ukr Biokhim Zh (1999). 2003. PMID: 14682002 Ukrainian.

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