The Spectrum of Mutations of Homocystinuria in the MENA Region
<p dir="ltr">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. Consequently, this build-up could lead to several comp...
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2020
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