تصفح Academic حسب الموضوع "cystathionine β-synthase"
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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. ...