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Journal Abstract Search
335 related items for 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 [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 [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 [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 [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 [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 12; 64(7):1255-7. PubMed ID: 15824356 [Abstract] [Full Text] [Related]
17. 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 12; 72(4):322-5. PubMed ID: 11286506 [Abstract] [Full Text] [Related]
18. [Late-onset nonketotic hyperglycinemia: a case report]. Hasegawa T, Shiga Y, Matsumoto A, Takeda A, Itoyama Y. No To Shinkei; 2002 Dec 12; 54(12):1068-72. PubMed ID: 12599524 [Abstract] [Full Text] [Related]