Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Inborn errors of metabolism (IEMs) are a major subgroup of rare diseases, comprising over 1000 genetic disorders that disrupt essential biochemical pathways. Globally, they cause an estimated 23,500 childhood deaths annually. Despite diagnostic advan…

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