AI Article Synopsis
- The study evaluated the effectiveness of exome sequencing (ES) to diagnose inherited metabolic disorders (IMDs) in 547 patients with non-specific developmental disorders.
- Results showed that 12% (177 patients) received a causative diagnosis of IMDs through ES.
- The findings highlight the advantages of using ES for diagnosing IMDs, especially when traditional biochemical tests are not available.
Article Abstract
Unlabelled: 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 of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable.
Synopsis: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528787 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2021.100812 | DOI Listing |
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