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Search Results - Olkhovych, N V
Search Results - Olkhovych, N V
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Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases
by
Olkhovych, N V
Published in
Ukrainian biochemical journal
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Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine
by
Olkhovych, N V
,
Gorovenko, N G
Published in
Ukrainian biochemical journal
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DIFFERENTIATION OF NORM AND PATHOLOGY DURING SELECTIVE BIOCHEMICAL SKREENING OF LYSOSOMAL STORAGE DISEASES WITH INCREASED EXCRETION OF OLIGOSACCHARIDES
by
Mytsyk, N Y
,
Olkhovych, N V
,
Gorovenko, N G
Published in
Ukrainian biochemical journal
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Major mutation p.His281Tyr in Gene GLB1 in patients with GM1-gangliosidosis in Ukraine
by
Mytsyk, N. Y.
,
Olkhovych, N. V.
,
Gorovenko, N. G.
Published in
Cytology and genetics
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Spectrum of mutations in patients with organic acidurias from Ukraine
by
Barvinska, O. I.
,
Olkhovych, N. V.
,
Shkurko, T. O.
,
Gorovenko, N. G.
Published in
Biopolimery i kletka
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Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease
by
Olkhovych, N. V.
,
Nedoboy, A. M.
,
Pichkur, N. O.
,
Gorovenko, N. H.
Published in
Biopolimery i kletka
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Analysis of mutations in GBAgene in Ukrainian patients with Gaucher disease
by
Olkhovych, N V
,
Nedoboy, A M
,
Pichkur, N O
,
Gorovenko, N H
Published in
Biopolimery i kletka
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Clinical Presentation of a Patient with a Severe form of Pompe Disease
by
Sinchuk, N.I
,
Olkhovych, N.V
,
Pichkur, N.A
,
Ivanova, T.P
,
Gorovenko, N.G
Published in
Clinical therapeutics
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DIFFERENTIATION OF NORM AND PATHOLOGY DURING SELECTIVE BIOCHEMICAL SKREENING OF LYSOSOMAL STORAGE DISEASES WITH INCREASED EXCRETION OF OLIGOSACCHARIDES
by
Mytsyk, N Y
,
Olkhovych, N V
,
Gorovenko, N G
Published in
Ukrainian biochemical journal
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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
by
Lugowska, Agnieszka
,
Amaral, Olga
,
Berger, Johannes
,
Berna, Linda
,
Bosshard, Nils U.
,
Chabas, Amparo
,
Fensom, Anthony
,
Gieselmann, Volkmar
,
Gorovenko, Natalia G.
,
Lissens, Willy
,
Mansson, Jan-Eric
,
Marcao, Ana
,
Michelakakis, Helen
,
Bernheimer, Hanno
,
Ol’khovych, Natalia V.
,
Regis, Stefano
,
Sinke, Richard
,
Tylki-Szymanska, Anna
,
Czartoryska, Barbara
Published in
Molecular genetics and metabolism
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Regulatory landscape of providing information on newborn screening to parents across Europe
by
Franková, Věra
,
Driscoll, Riona O
,
Jansen, Marleen E
,
Loeber, J Gerard
,
Kožich, Viktor
,
Bonham, James
,
Borde, Patricia
,
Brincat, Ian
,
Cheillan, David
,
Dekkers, Eugenie
,
Fingerhut, Ralph
,
Kuš, Iva Bilandžija
,
Girginoudis, Panagiotis
,
Groselj, Urh
,
Hougaard, David
,
Knapková, Mária
,
la Marca, Giancarlo
,
Malniece, Ieva
,
Nanu, Michaela Iuliana
,
Nennstiel, Uta
,
Olkhovych, Nataliia
,
Oltarzewski, Mariusz
,
Pettersen, Rolf D
,
Racz, Gabor
,
Reinson, Karit
,
Salimbayeva, Damilya
,
Songailiene, Jurgita
,
Vilarinho, Laura
,
Vogazianos, Marios
,
Zetterström, Rolf H
,
Zeyda, Maximilian
Published in
European journal of human genetics : EJHG
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