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Although individual inborn errors of metabolism are relatively rare conditions, as a group they represent a vast and diverse collection of diseases that are a significant cause of morbidity and mortality worldwide. Even though reports in the literature often quote a cumulative incidence varying between 1 in 1500 and 1 in 5000 live births, a recent retrospective study1 on an ethnically diverse population in the United Kingdom found this range to underestimate the real figure, and placed the prevalence …
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