Specificities of Sanfilippo A syndrome laboratory diagnostics

• Published in: Вiopolymers and Cell
• Date: 2014
• ISSN: 0233-7657
• Main Authors: Trofimova, N.S., Olkhovich, N.V., Gorovenko, N.G.
• Format: Article
• Language: English
• Published: Інститут молекулярної біології і генетики НАН України 2014
• Subjects: Biomedicine
• Online Access: https://nasplib.isofts.kiev.ua/handle/123456789/154555
• Journal Title: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Cite this: Specificities of Sanfilippo A syndrome laboratory diagnostics / N.S. Trofimova, N.V. Olkhovich, N.G. Gorovenko // Вiopolymers and Cell. — 2014. — Т. 30, № 5. — С. 388-393. — Бібліогр.: 17 назв. — англ.

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 diagnosis of MPS IIIA and determine the prevalence of major mutations R74C...