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Autor:
Elena V. Saifullina, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 2, Pp 88-92 (2020)
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) ac
Externí odkaz:
https://doaj.org/article/9d772b4a9a2c43869b3bae4ffcd15863