334 related articles for article (PubMed ID: 16157495)
1. 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]
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. 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]
4. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
Applegarth DA; Toone JR
Mol Genet Metab; 2001; 74(1-2):139-46. PubMed ID: 11592811
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
Korman SH; Wexler ID; Gutman A; Rolland MO; Kanno J; Kure S
Ann Neurol; 2006 Feb; 59(2):411-5. PubMed ID: 16404748
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.
Sellner L; Edkins E; Greed L; Lewis B
Mol Genet Metab; 2005 Feb; 84(2):167-71. PubMed ID: 15670722
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. 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]
13. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Kuseyri Hübschmann O; Juliá-Palacios NA; Olivella M; Guder P; Zafeiriou DI; Horvath G; Kulhánek J; Pearson TS; Kuster A; Cortès-Saladelafont E; Ibáñez S; García-Jiménez MC; Honzík T; Santer R; Jeltsch K; Garbade SF; Hoffmann GF; Opladen T; García-Cazorla Á
Ann Neurol; 2022 Aug; 92(2):292-303. PubMed ID: 35616651
[TBL] [Abstract][Full Text] [Related]
14. Nonketotic Hyperglycinemia of Infants in Taiwan.
Chiu CF; Lin JL; Lin JJ; Tseng MH; Lo FS; Chiang MC
Pediatr Neonatol; 2016 Oct; 57(5):420-426. PubMed ID: 26947380
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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
Mol Genet Metab; 2001 Apr; 72(4):322-5. PubMed ID: 11286506
[TBL] [Abstract][Full Text] [Related]
17. [Late-onset nonketotic hyperglycinemia: a case report].
Hasegawa T; Shiga Y; Matsumoto A; Takeda A; Itoyama Y
No To Shinkei; 2002 Dec; 54(12):1068-72. PubMed ID: 12599524
[TBL] [Abstract][Full Text] [Related]
18. A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.
Beijer P; Lichtenbelt KD; Hofstede FC; Nikkels PG; Lemmers P; de Vries LS
Neuropediatrics; 2012 Jun; 43(3):164-7. PubMed ID: 22610665
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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
Hum Mutat; 2001; 17(1):76. PubMed ID: 11139253
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
