Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient

    Jia Geng, Yi Sun, Yi Zhao, Wei Xiong, Mingjun Zhong, Yajuan Zhang, Qiuling Zhao, Zhongwei Bao, Jing Cheng, Yu Lu, Huijun Yuan
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    Studysummary In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
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