Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia()

BACKGROUND: Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, small numbers of adults...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Hayasaka, Kiyoshi, Numakura, Chikahiko, Toyota, Kentaro, Kakizaki, Satoru, Watanabe, Hisayoshi, Haga, Hiroaki, Takahashi, Hiroshi, Takahashi, Yoshimi, Kaneko, Mieko, Yamakawa, Mitsunori, Nunoi, Hiroyuki, Kato, Takeo, Ueno, Yoshiyuki, Mori, Masatomo
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
Matèries:
Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121258/
https://ncbi.nlm.nih.gov/pubmed/27896073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2013.12.002
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