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

• Veröffentlicht in: Вiopolymers and Cell
• Datum: 2016
• Hauptverfasser: Trofimova, N.S., Olkhovich, N.V., Gorovenko, N.G.
• Format: Artikel
• Sprache: Englisch
• Veröffentlicht: Інститут молекулярної біології і генетики НАН України 2016
• Schlagworte: Biomedicine
• Online Zugang: https://nasplib.isofts.kiev.ua/handle/123456789/152847
• Назва журналу: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Zitieren: Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene / N.S. Trofimova, N.V. Olkhovich, N.G. Gorovenko // Вiopolymers and Cell. — 2016. — Т. 32, № 5. — С. 359-366. — Бібліогр.: 24 назв. — англ.

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 identify the whole spectrum of mutations in SGSH gene in Ukrainian patients with M...