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.临床遗传代谢病[M].北京:人民卫生出版社,2015.

[2]https://www.ncbi.nlm.nih.gov/books/NBK1458/

[3]Diez-Fernandez C,Rüfenacht V,Häberle J. Mutations in the human Argininosuccinate Synthetase(ASS1) gene,impact on patients,common changes,and structural considerations. Hum Mutat,2017,38(5):471-484.

[4]Woo HI,Park HD,Lee YW. Molecular genetics of citrullinemia typesⅠand Ⅱ. Clin Chim Acta,2014,431:1-8.