Spectrum of mutations in patients with organic acidurias from Ukraine

• Published in: Вiopolymers and Cell
• Date: 2018
• Main Authors: Barvinska, O.I., Olkhovych, N.V., Shkurko, T.O., Gorovenko, N.G.
• Format: Article
• Language: English
• Published: Інститут молекулярної біології і генетики НАН України 2018
• Subjects: Biomedicine
• Online Access: https://nasplib.isofts.kiev.ua/handle/123456789/154281
• Journal Title: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Cite this: Spectrum of mutations in patients with organic acidurias from Ukraine / O.I. Barvinska, N.V. Olkhovych, T.O. Shkurko, N.G. Gorovenko // Вiopolymers and Cell. — 2018. — Т. 34, № 2. — С. 107-116. — Бібліогр.: 19 назв. — англ.

Aim. To identify mutations in patients from Ukraine with glutaric aciduria I, isolated methylmalonic aciduria, and isovaleric aciduria. Methods. Sanger sequencing. Results. We have identified 37.5 % of alleles (3/8) in patients with methylmalonic aciduria, 100 % of alleles (4/4) in patients with iso...