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  1. No Access

    Article

    Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

    Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were iden...

    Khanh Ngoc Nguyen, Elsayed Abdelkreem… in Journal of Inherited Metabolic Disease (2017)

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    Article

    Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1

    Mitochondrial fatty acid oxidation (FAO) disorders are caused by defects in one of the FAO enzymes that regulates cellular uptake of fatty acids and free carnitine. An in vitro probe acylcarnitine (IVP) assay ...

    Jamiyan Purevsuren, Hironori Kobayashi… in Analytical and Bioanalytical Chemistry (2013)

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    Chapter

    The Dynamic Transcriptome of Mice

    The mouse transcriptome was comprehensively analyzed by the collection of mouse full-length cDNA clones. With the development of several technologies, the international Functional Annotation Of Mouse (FANTOM) ...

    Yuki Hasegawa, Yoshihide Hayashizaki in Introduction to Systems Biology (2007)