Article
Inborn Errors of Metabolism.
Advances in clinical chemistry - 1 Jan 2016
Ezgu Fatih
Abstract excerpt
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths. Most of the disorders are inherited as autosomal recessive whereas autosomal dominant and X-linked disorders are also present. The clinical signs and symptoms...
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