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Adult-onset type II citrullinemia: Current insights and therapy
Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifestations. It causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Patients with NICCD present with intrahepatic cholestasis in the neonatal period and usually...
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| Publicado no: | Appl Clin Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6296197/ https://ncbi.nlm.nih.gov/pubmed/30588060 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S162084 |
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