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Impact of Executive and Adaptive function on Functional Outcomes in Adults with Maple Syrup Urine Disease

2024-05-17 genetic and genomic medicine Title + abstract only
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PurposeSuccessful transition to adulthood requires intact executive and adaptive function. These neurocognitive domains, critical for independence, are frequently impaired in inherited metabolic disorders (IMD), though predictive clinical and biochemical factors are lacking. Standardized assessments linking neurocognitive status with functional outcomes are needed to improve prognostication and tailor support for affected emerging adults. MethodsMaple Syrup Urine Disease (MSUD), a relatively pr...

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