[Gene mutations in a newborn infant with hypermethioninemia]

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):1020-1021. doi: 10.7499/j.issn.1008-8830.2017.09.017.
[Article in Chinese]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Female
  • Glycine N-Methyltransferase / deficiency*
  • Glycine N-Methyltransferase / genetics
  • Humans
  • Infant, Newborn
  • Mutation*

Substances

  • Glycine N-Methyltransferase

Supplementary concepts

  • Hypermethioninemia

Grants and funding

常州市高层次卫生人才培养工程资助(2016CZLJ013)