The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
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DOI: 10.1016/j.ymgmr.2021.100812
Abstract: Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort… read more here.
Keywords: cohort 547; exome sequencing; developmental disorders; inherited metabolic ... See more keywords