Перегляд за автором "Trofimova, N.S."

Результати 1-3 з 3

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

Trofimova, N.S.; Olkhovich, N.V. (Вiopolymers and Cell, 2016)

Mucopolysaccharidosis I (MPS I) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of the lysosomal enzyme α-L-iduronidase (IDUA; EC 3.2.1.76). There are three clinical forms ...
Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene

Trofimova, N.S.; Olkhovich, N.V.; Gorovenko, N.G. (Вiopolymers and Cell, 2016)

Mucopolysaccharidosis type III or Sanfilippo syndrome (MIM # 252900) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of heparan-N-sulfatase enzyme (EC 3.10.1.1). Aim. To ...
Specificities of Sanfilippo A syndrome laboratory diagnostics

Trofimova, N.S.; Olkhovich, N.V.; Gorovenko, N.G. (Вiopolymers and Cell, 2014)

Mucopolysaccharidosis type IIIA (MPS IIIA) occurs due to the deficiency of lysosomal enzyme heparan-N-sulfatase (sulfamidase), which is caused by mutations in the SGSH gene. Aim. To identify the characteristics of biochemical ...

Результати 1-3 з 3

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