Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon. Patients are suspected, based on a combination of clinical and biochemical features; however, the final confirmation relies on genetic testing. U...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-11-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1029947/full |