中国第一批罕见病目录释义(手册版)
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参考文献

[1]顾学范. 临床遗传代谢.北京:人民卫生出版社,2015.

[2]http://www.genereviews.org

[3]Wolf B.Biotinidase deficiency:if you have to have an inherited metabolic disease,this is the one to have. Genet Med,2012,14(6):565-575.