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Estimation of the global burden of autosomal recessive rare inborn errors of metabolism
2025-02-18
genetic and genomic medicine
Title + abstract only
View on medRxiv
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While many Rare Inborn Errors of Metabolism are treatable conditions their optimal diagnosis and treatment is a challenge for nations with low resources. Moreover, the population prevalence of these conditions is largely unknown. The availability of large genomic datasets brings the opportunity to estimate population carrier frequency of autosomal recessive IEMs. This would help to generate diseases burden statistics for better allocation of resources. In the current work we estimated the gene s...
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