Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases....

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Publicado no:Exp Ther Med
Main Authors: Ago, Yasuhiko, Otsuka, Hiroki, Sasai, Hideo, Abdelkreem, Elsayed, Nakama, Mina, Aoyama, Yuka, Matsumoto, Hideki, Fujiki, Ryoji, Ohara, Osamu, Akiyama, Kazumasa, Fukui, Kaori, Watanabe, Yoriko, Nakajima, Yoko, Ohnishi, Hidenori, Ito, Tetsuya, Fukao, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7480138/
https://ncbi.nlm.nih.gov/pubmed/32952630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9166
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