Article
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
American journal of medical genetics. Part A - 1 Mar 2018
Liu Zongcai, Zhao Xiaoyuan, Sheng Huiying, Cai Yanna, Yin Xi, Chen Xiaodan, Su Ling, Lu Zhikun, Zeng Chunhua, Li Xiuzhen, Liu Li
Abstract excerpt
Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Herein, for the first time, we reported the clinical features, BTD gene mutations and...
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