CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0616-x
Abstract: From 1999 to date, 50 affecting function variants have been identified and associated to HHH syndrome [1–5]. As it is not available in the literature a complete up-to-date list of disease-causing variants for SLC25A15 gene,… read more here.
Keywords: cugc hyperornithinemia; hhh syndrome; homocitrullinuria hhh; hyperammonemia homocitrullinuria ... See more keywords
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1004598
Abstract: 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 presentation of… read more here.
Keywords: clinical heterogeneity; slc25a15 gene; hyperammonemia homocitrullinuria; hyperornithinemia hyperammonemia ... See more keywords