Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency

Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation stage, and type II citrullinemia in adulthood (CTLN2). The cause is the absence or dysfunction of the calcium-regulated mi...

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Detalles Bibliográficos
Autores principales: Tavoulari, Sotiria, Lacabanne, Denis, Thangaratnarajah, Chancievan, Kunji, Edmund R.S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614230/
https://www.ncbi.nlm.nih.gov/pubmed/35725541
http://dx.doi.org/10.1016/j.tem.2022.05.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614230/
https://www.ncbi.nlm.nih.gov/pubmed/35725541
http://dx.doi.org/10.1016/j.tem.2022.05.002

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