Browsing Biomedical Sciences by Subject "Homocystinuria"
Now showing items 1-2 of 2
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In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
( Wiley , 2018 , Article)Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ... -
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype
( Elsevier , 2022 , Article)The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C. • The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties ...