190 related articles for article (PubMed ID: 24731848)
1. Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.
Brenton JN; Rust RS
Pediatr Neurol; 2014 May; 50(5):536-8. PubMed ID: 24731848
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Kure S; Kojima K; Ichinohe A; Maeda T; Kalmanchey R; Fekete G; Berg SZ; Filiano J; Aoki Y; Suzuki Y; Izumi T; Matsubara Y
Ann Neurol; 2002 Nov; 52(5):643-6. PubMed ID: 12402263
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR; Friederich MW; Swanson MA; Shaikh T; Bhattacharya K; Scharer GH; Aicher J; Creadon-Swindell G; Geiger E; MacLean KN; Lee WT; Deshpande C; Freckmann ML; Shih LY; Wasserstein M; Rasmussen MB; Lund AM; Procopis P; Cameron JM; Robinson BH; Brown GK; Brown RM; Compton AG; Dieckmann CL; Collard R; Coughlin CR; Spector E; Wempe MF; Van Hove JL
Brain; 2014 Feb; 137(Pt 2):366-79. PubMed ID: 24334290
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A; Matsubara Y; Kure S
Mol Genet Metab; 2005; 86(1-2):61-9. PubMed ID: 16157495
[TBL] [Abstract][Full Text] [Related]
9. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.
Coughlin CR; Swanson MA; Spector EB; Kronquist KE; Van Hove JLK
Pediatr Neurol; 2018 Feb; 79():e1. PubMed ID: 29239742
[No Abstract] [Full Text] [Related]
10. 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]
11. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H; Yıldız Y; Olgaç A; Kasapkara ÇS; Küçükcongar A; Zenciroğlu A; Yüksel D; Ceylaner S; Kılıç M
Metab Brain Dis; 2021 Aug; 36(6):1213-1222. PubMed ID: 33791923
[TBL] [Abstract][Full Text] [Related]
12. Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Brunel-Guitton C; Casey B; Coulter-Mackie M; Vallance H; Hewes D; Stockler-Ipsiroglu S; Mercimek-Mahmutoglu S
Mol Genet Metab; 2011 Jun; 103(2):193-6. PubMed ID: 21411353
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia.
Morrison PF; Sankar R; Shields WD
Pediatr Neurol; 2006 Nov; 35(5):356-8. PubMed ID: 17074608
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
Kure S; Ichinohe A; Kojima K; Sato K; Kizaki Z; Inoue F; Yamanaka C; Matsubara Y
J Pediatr; 2004 Jun; 144(6):827-9. PubMed ID: 15192636
[TBL] [Abstract][Full Text] [Related]
17. Two novel missense mutations observed in nonketotic hyperglycinemia.
Yoon IA; Lee NM; Yoo BH; Lee BS; Yoo HW
Pediatr Neurol; 2012 Jun; 46(6):401-3. PubMed ID: 22633639
[TBL] [Abstract][Full Text] [Related]
18. Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Korman SH; Boneh A; Ichinohe A; Kojima K; Sato K; Ergaz Z; Gomori JM; Gutman A; Kure S
Ann Neurol; 2004 Jul; 56(1):139-43. PubMed ID: 15236413
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA; Coughlin CR; Scharer GH; Szerlong HJ; Bjoraker KJ; Spector EB; Creadon-Swindell G; Mahieu V; Matthijs G; Hennermann JB; Applegarth DA; Toone JR; Tong S; Williams K; Van Hove JL
Ann Neurol; 2015 Oct; 78(4):606-18. PubMed ID: 26179960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
