[Gene mutations in a newborn infant with hypermethioninemia].
作者信息
Yang Yu-Qi, Wang Huai-Yan, Jiang Li-Hua, Zhang Yu-Ping, Yu Bing, Zhu Wei, Qin Zhi-Qiang
机构信息
Changzhou Maternal and Child Health Care Hospital, Changzhou, Jiangsu 213003, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):1020-1021. doi: 10.7499/j.issn.1008-8830.2017.09.017.
Abstract
摘要
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本文引用的文献
1
Mechanistic basis of hypermethioninemia.高甲硫氨酸血症的机制基础。
Amino Acids. 2016 Nov;48(11):2479-2489. doi: 10.1007/s00726-016-2302-4. Epub 2016 Jul 27.
2
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.在日本进行新生儿筛查时发现的蛋氨酸腺苷转移酶 I/III 缺乏症相关突变谱。
Mol Genet Metab. 2013 Dec;110(4):460-4. doi: 10.1016/j.ymgme.2013.10.013. Epub 2013 Oct 31.
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Hypermethioninemias of genetic and non-genetic origin: A review.遗传和非遗传来源的高蛋氨酸血症：综述。
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9.
4
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.由于蛋氨酸腺苷转移酶 I/III（MAT I/III）缺乏导致的高蛋氨酸血症：在扩大的新生儿筛查计划中的诊断。
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S233-9. doi: 10.1007/s10545-008-0811-3. Epub 2008 May 20.
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Spectrum of hypermethioninemia in neonatal screening.新生儿筛查中高甲硫氨酸血症的谱系
Early Hum Dev. 2005 Jun;81(6):529-33. doi: 10.1016/j.earlhumdev.2004.11.005. Epub 2004 Dec 19.
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