Article
Human biochemical genetics: an insight into inborn errors of metabolism.
Journal of Zhejiang University. Science. B - 1 Feb 2006
Yu Chunli, Scott C Ronald
Abstract excerpt
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics....
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