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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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Detalles Bibliográficos
Autores principales: Hayasaka, Kiyoshi, Numakura, Chikahiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296197/
https://www.ncbi.nlm.nih.gov/pubmed/30588060
http://dx.doi.org/10.2147/TACG.S162084