Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis I: identification of three new mutations in б-L-iduronidase gene за авторством N. S. Trofimova, N. V. Olkhovich

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Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene за авторством N. S. Trofimova, N. V. Olkhovich, N. G. Gorovenko

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

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Specificities of Sanfilippo A syndrome laboratory diagnostics за авторством N. S. Trofimova, N. V. Olkhovich, N. G. Gorovenko

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