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Known for its ability to combat free radicals, glutathione helps protect the skin from damage caused by UV rays, pollution, and other environmental factors

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Considering that CBS deficiency is an autosomal recessive disorder and that no other alteration was detected in coding regions of the CBS gene in homocystinuric patients of this family, it is highly possible that the two novel mutations of CBS identified here are responsible for the pathogenesis of homocystinuria in this pedigree

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