Article

Estimation of the global burden of autosomal recessive rare inborn errors of metabolism

2025-02-18

Abstract excerpt

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 statist...

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Literature Corpus work: 723c5108-5095-5581-aae8-45275951656e
DOI: 10.1101/2025.02.14.25322285

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