Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis I: identification of three new mutations in α-L-iduronidase gene

за авторством Trofimova, N.S., Olkhovich, N.V.
Опубліковано 2016

Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene

за авторством Trofimova, N.S., Olkhovich, N.V., Gorovenko, N.G.
Опубліковано 2016

Specificities of Sanfilippo A syndrome laboratory diagnostics

за авторством Trofimova, N.S., Olkhovich, N.V., Gorovenko, N.G.
Опубліковано 2014