Browsing Biomedical Research Center Research by Subject "homocystinuria"

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    • The Spectrum of Mutations of Homocystinuria in the MENA Region 

      Al-Sadeq, Duaa W.; Nasrallah, Gheyath K. ( 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. ...