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Journal Abstract Search

341 related items for PubMed ID: 16450403

  • 1. 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
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  • 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 26; 64(8):1426-30. PubMed ID: 15851735
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  • 6. 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 26; 84(2):167-71. PubMed ID: 15670722
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  • 7. 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 26; 59(11):593-7. PubMed ID: 25231368
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  • 8. Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
    Drackley A, Peter M, Rathbun P, Ing A, Prada CE, Yap KL.
    Am J Med Genet A; 2024 Aug 26; 194(8):e63622. PubMed ID: 38572626
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  • 16. 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 26; 56(1):139-43. PubMed ID: 15236413
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  • 17. Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.
    Takayanagi M, Kure S, Sakata Y, Kurihara Y, Ohya Y, Kajita M, Tada K, Matsubara Y, Narisawa K.
    Hum Genet; 2000 Mar 26; 106(3):298-305. PubMed ID: 10798358
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  • 18. 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 26; 144(6):827-9. PubMed ID: 15192636
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  • 19. 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 26; 29(1):122-7. PubMed ID: 23349517
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