journal1 ›› 2018, Vol. 26 ›› Issue (11): 1274-1276.DOI: 10.11852/zgetbjzz2018-26-11-31
Received:2018-04-08
Revised:2018-05-14
刘霞,胡萍
作者简介:刘霞(1982 )，女，江苏人，主治医师，硕士学位，主要研究方向为新生儿疾病的诊治。
CLC Number:
刘霞,胡萍. 新生儿非酮症性高甘氨酸血症1例[J]. 中国儿童保健杂志, 2018, 26(11): 1274-1276.
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URL: http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2018-26-11-31
| [1]Coughlin CR 2nd, Swanson MA, Kronquist K,et al. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT[J]. Genet Med,2017,19(1):104-111. [2]Chiu CF, Lin JL, Lin JJ, et al.Nonketotic Hyperglycinemia of Infants in Taiwan [J]. Pediatr Neonatol,2016,57(5):420-426. [3]Belcastro V, Barbarini M, Barca S, et al. A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy [J]. Eur J Paediatr Neurol, 2016,20(1):192-195. [4]Azize NA, Ngah WZ, Othman Z,et al. Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy [J]. J Hum Genet,2014,59(11):593-597. [5]Baker PR , Friederich MW, Swanson MA,et al.Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 [J]. Brain,2014,137(Pt 2):366-379. [6]Alfadhel M, Nashabat M, Qahtani HA, et al. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans [J]. Hum Genet,2016,135(11):1263-1268. [7]Terek D, Koroglu OA, Gunes S, et al. Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia [J]. Pediatr Int,2012,54(5):717-720. [8]Van Hove J, Coughlin C,Scharer G. Glycine encephalopathy[M]∥Adam MP, Ardinger HH, Pagon RA, et al. Gene reviews. Seattle (WA): University of Washington,1993-2018. [9]Pinto WB, Souza PV, Santos AJ. Brain MRI features in late-onset nonketotic hyperglycinemia [J]. Arq Neuropsiquiatr,2015,73(10):8. |
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