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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715967/ https://www.ncbi.nlm.nih.gov/pubmed/36468010 http://dx.doi.org/10.3389/fgene.2022.1029947 |