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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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| Publicado no: | Trends Endocrinol Metab |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2022
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7614230/ https://ncbi.nlm.nih.gov/pubmed/35725541 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tem.2022.05.002 |
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