Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

Abstract Background Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin‐dependent carboxylase functions. Methods A Chinese patient with...

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Hlavní autoři:	Jia Geng, Yi Sun, Yi Zhao, Wenyu Xiong, Mingjun Zhong, Yajuan Zhang, Qiuling Zhao, Zhongwei Bao, Jing Cheng, Yu Lu, Huijun Yuan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2021-02-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	biotinidase deficiency genetic diagnosis
On-line přístup:	https://doi.org/10.1002/mgg3.1591
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