Cargando…
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: | Salman, Doaa O., Mahfouz, Rami, Bitar, Elio R., Samaha, Jinane, Karam, Pascale E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
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 |
Ejemplares similares
-
Mitochondrial depletion syndrome type 3: the Lebanese variant
por: Majdalani, Marianne, et al.
Publicado: (2023) -
Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India
por: Tamrakar, Anish, et al.
Publicado: (2022) -
High Myopia: A Pointer of an Inborn Error of Metabolism
por: Sahu, Sanjay Kumar, et al.
Publicado: (2022) -
Intronic variants in inborn errors of metabolism: Beyond the exome
por: Hertzog, Ashley, et al.
Publicado: (2022) -
Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
por: Khan, Adnan, et al.
Publicado: (2020)