Á lódáil...
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...
Na minha lista:
| Foilsithe in: | Trends Endocrinol Metab |
|---|---|
| Main Authors: | , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2022
|
| Ábhair: | |
| Rochtain Ar Líne: | 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 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|