BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 17361008)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Delivery of a normal baby after preimplantation genetic diagnosis for non-ketotic hyperglycinaemia.
    Hellani A; Sammour A; Johansson L; El-Sheikh A
    Reprod Biomed Online; 2008 Jun; 16(6):893-7. PubMed ID: 18549703
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.
    Chang CY; Lin SP; Lin HY; Chuang CK; Ho CS; Hsu CH
    Acta Paediatr Taiwan; 2008; 49(1):35-7. PubMed ID: 18581728
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 106(3):298-305. PubMed ID: 10798358
    [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 molecular genetic study of nonketotic hyperglycinemia in a Chinese family].
    Gao ZJ; Jiang Q; Chen Q; Xu KM
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Mar; 19(3):268-271. PubMed ID: 28302194
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.