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Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.02.001
Abstract: Classical homocystinuria (HCU) is a genetic disorder caused by mutations in the cystathionine beta synthase gene, which results in impaired metabolism of the sulfur-bearing amino acid homocysteine and its accumulation in blood and tissues. Classical…
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Keywords:
homocysteine;
homocysteine levels;
patients homocysteine;
severely elevated ... See more keywords