Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations of pyruvate and lactate in the cerebrospinal fluid. Only 4 cases of HIBCH deficiency have been reporte...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Metab Rep
主要な著者: Yamada, Kenichiro, Naiki, Misako, Hoshino, Shin, Kitaura, Yasuyuki, Kondo, Yusuke, Nomura, Noriko, Kimura, Reiko, Fukushi, Daisuke, Yamada, Yasukazu, Shimozawa, Nobuyuki, Yamaguchi, Seiji, Shimomura, Yoshiharu, Miura, Kiyokuni, Wakamatsu, Nobuaki
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2014
主題:
Research Paper
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121361/
https://ncbi.nlm.nih.gov/pubmed/27896122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.10.003
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