169 related articles for article (PubMed ID: 25231368)
1. 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
J Hum Genet; 2014 Nov; 59(11):593-7. PubMed ID: 25231368
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mutat; 2006 Apr; 27(4):343-52. PubMed ID: 16450403
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops).
Chauke CG; Magwebu ZE; Sharma JR; Arieff Z; Seier JV
J Med Primatol; 2016 Aug; 45(4):189-94. PubMed ID: 27325422
[TBL] [Abstract][Full Text] [Related]
4. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
Kanno J; Hutchin T; Kamada F; Narisawa A; Aoki Y; Matsubara Y; Kure S
J Med Genet; 2007 Mar; 44(3):e69. PubMed ID: 17361008
[TBL] [Abstract][Full Text] [Related]
5. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR; Swanson MA; Kronquist K; Acquaviva C; Hutchin T; Rodríguez-Pombo P; Väisänen ML; Spector E; Creadon-Swindell G; Brás-Goldberg AM; Rahikkala E; Moilanen JS; Mahieu V; Matthijs G; Bravo-Alonso I; Pérez-Cerdá C; Ugarte M; Vianey-Saban C; Scharer GH; Van Hove JL
Genet Med; 2017 Jan; 19(1):104-111. PubMed ID: 27362913
[TBL] [Abstract][Full Text] [Related]
6. Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS; Kor D; Ceylaner S; Mert GG; Incecik F; Kartal E; Mungan NO
J Child Neurol; 2015 May; 30(6):789-92. PubMed ID: 24838951
[TBL] [Abstract][Full Text] [Related]
7. A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
Lin Y; Zheng Z; Sun W; Fu Q
BMC Med Genet; 2018 Jan; 19(1):5. PubMed ID: 29304759
[TBL] [Abstract][Full Text] [Related]
8. A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
Love JM; Prosser D; Love DR; Chintakindi KP; Dalal AB; Aggarwal S
J Child Neurol; 2014 Jan; 29(1):122-7. PubMed ID: 23349517
[TBL] [Abstract][Full Text] [Related]
9. Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
Liu S; Wang Z; Liang J; Chen N; OuYang H; Zeng W; Chen L; Xie X; Jiang J
Arch Argent Pediatr; 2017 Aug; 115(4):e225-e229. PubMed ID: 28737873
[TBL] [Abstract][Full Text] [Related]
10. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
Flusser H; Korman SH; Sato K; Matsubara Y; Galil A; Kure S
Neurology; 2005 Apr; 64(8):1426-30. PubMed ID: 15851735
[TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation in a neonate with nonketotic hyperglycinemia.
Meyer S; Acquaviva C; Shamdeen MG; Haas D; Vianey-Saban C
Pediatr Neurol; 2010 Nov; 43(5):363-7. PubMed ID: 20933183
[TBL] [Abstract][Full Text] [Related]
12. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A; Komatsuzaki S; Kikuchi A; Niihori T; Aoki Y; Fujiwara K; Tanemura M; Hata A; Suzuki Y; Relton CL; Grinham J; Leung KY; Partridge D; Robinson A; Stone V; Gustavsson P; Stanier P; Copp AJ; Greene ND; Tominaga T; Matsubara Y; Kure S
Hum Mol Genet; 2012 Apr; 21(7):1496-503. PubMed ID: 22171071
[TBL] [Abstract][Full Text] [Related]
13. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Conter C; Rolland MO; Cheillan D; Bonnet V; Maire I; Froissart R
J Inherit Metab Dis; 2006 Feb; 29(1):135-42. PubMed ID: 16601880
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Kose E; Yis U; Hiz S; Arslan N
Neurosciences (Riyadh); 2017 Apr; 22(2):131-133. PubMed ID: 28416785
[TBL] [Abstract][Full Text] [Related]
15. Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Khraim W; Abu-Libdeh B; Ayesh S; Dweikat I
Brain Dev; 2017 Aug; 39(7):601-605. PubMed ID: 28325525
[TBL] [Abstract][Full Text] [Related]
16. Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Dinopoulos A; Kure S; Chuck G; Sato K; Gilbert DL; Matsubara Y; Degrauw T
Neurology; 2005 Apr; 64(7):1255-7. PubMed ID: 15824356
[TBL] [Abstract][Full Text] [Related]
17. [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
Jiang TJ; Jiang JJ; Xu JL; Zhen J; Jiang PF; Gao F
Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1087-1091. PubMed ID: 29046206
[TBL] [Abstract][Full Text] [Related]
18. Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P; Somashekar PH; Hebbar M; Kadavigere R; Praveen BK; Girisha KM; Shukla A
Clin Genet; 2021 Aug; 100(2):201-205. PubMed ID: 33890291
[TBL] [Abstract][Full Text] [Related]
19. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations.
Applegarth DA; Toone JR
Am J Med Genet A; 2006 Jan; 140(2):186-8. PubMed ID: 16353254
[No Abstract] [Full Text] [Related]
20. Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Kure S
Brain Dev; 2011 Oct; 33(9):753-7. PubMed ID: 21470805
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]