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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...

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Autors principals: Doaa O. Salman, Rami Mahfouz, Elio R. Bitar, Jinane Samaha, Pascale E. Karam
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2022-11-01
Col·lecció:Frontiers in Genetics
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Accés en línia:https://www.frontiersin.org/articles/10.3389/fgene.2022.1029947/full
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