Similar articles for PMID: 30105116

Year	Number of Results
1975	1
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1987	2
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1

Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Radha Rama Devi A, Lingappa L, Naushad SM. Radha Rama Devi A, et al. J Pediatr Genet. 2018 Sep;7(3):97-102. doi: 10.1055/s-0038-1667036. Epub 2018 Jul 6. J Pediatr Genet. 2018. PMID: 30105116 Free PMC article.

2

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan A, Hean TS, Syed Zakaria SZ, Lock-Hock N. Azize NA, et al. J Hum Genet. 2014 Nov;59(11):593-7. doi: 10.1038/jhg.2014.69. Epub 2014 Sep 18. J Hum Genet. 2014. PMID: 25231368

3

A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

Belcastro V, Barbarini M, Barca S, Mauro I. Belcastro V, et al. Eur J Paediatr Neurol. 2016 Jan;20(1):192-5. doi: 10.1016/j.ejpn.2015.08.008. Epub 2015 Sep 5. Eur J Paediatr Neurol. 2016. PMID: 26371980

4

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Toone JR, et al. Hum Mutat. 2001;17(1):76. doi: 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0. Hum Mutat. 2001. PMID: 11139253

5

Two novel missense mutations in nonketotic hyperglycinemia.

Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO. Yilmaz BS, et al. J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16. J Child Neurol. 2015. PMID: 24838951

6

Genomic organization of the murine aminomethyltransferase gene (Amt).

Backofen B, Leeb T. Backofen B, et al. DNA Seq. 2002 Aug;13(4):179-83. doi: 10.1080/1042517021000021572. DNA Seq. 2002. PMID: 12487019

7

Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.

Lee HH, Kim DJ, Ahn HJ, Ha JY, Suh SW. Lee HH, et al. J Biol Chem. 2004 Nov 26;279(48):50514-23. doi: 10.1074/jbc.M409672200. Epub 2004 Sep 7. J Biol Chem. 2004. PMID: 15355973 Free article.

8

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y. Kure S, et al. Hum Mutat. 2006 Apr;27(4):343-52. doi: 10.1002/humu.20293. Hum Mutat. 2006. PMID: 16450403

9

A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.

Silverstein S, Veerapandiyan A, Hayes-Rosen C, Ming X, Kornitzer J. Silverstein S, et al. Metab Brain Dis. 2019 Feb;34(1):373-376. doi: 10.1007/s11011-018-0317-0. Epub 2018 Oct 22. Metab Brain Dis. 2019. PMID: 30350008

10

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Toone JR, et al. Mol Genet Metab. 2001 Apr;72(4):322-5. doi: 10.1006/mgme.2001.3158. Mol Genet Metab. 2001. PMID: 11286506

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