Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene

Background: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare autosomal recessive disorder characterized by impaired ornithine transport across the inner mitochondrial membrane. HHH is caused by biallelic disease-causing variants in the SLC25A15 gene. The clinical presenta...

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Detalles Bibliográficos
Autores principales: Dweikat, Imad, Khalaf-Nazzal, Reham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730883/
https://www.ncbi.nlm.nih.gov/pubmed/36506307
http://dx.doi.org/10.3389/fgene.2022.1004598

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730883/
https://www.ncbi.nlm.nih.gov/pubmed/36506307
http://dx.doi.org/10.3389/fgene.2022.1004598

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