Browsing Biomedical Research Center by Subject "homocystinuria"
Now showing items 1-2 of 2
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Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein
( MDPI , 2024 , Article)Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe ... -
The Spectrum of Mutations of Homocystinuria in the MENA Region
( MDPI , 2020 , Article Review)Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. ...