Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literatu... by Xi May Zhen, Stephen M. Twigg, Ted Wu, Eddy Tabet, Margaret J. McGill, Maria Constantino, Amali Mallawaarachchi, Connie Luo, Senthil Thillainadesan, Yusof Rahman, Jencia Wong

Subjects: “…Beta-ketothiolase deficiency…”
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C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China by Yiming Lin, Zhantao Yang, Chiju Yang, Haili Hu, Haiyan He, Tingting Niu, Mingfang Liu, Dongjuan Wang, Yun Sun, Yuyan Shen, Xiaole Li, Huiming Yan, Yuanyuan Kong, Xinwen Huang

Subjects: “…Beta-ketothiolase deficiency…”
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Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China by Yuqi Yang, Shu hong Jiang, Shuang Liu, Xiao ya Han, Ying Wang, Lei lei Wang, Bin Yu

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