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Journal Abstract Search

132 related items for PubMed ID: 9600239

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  • 2. A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
    Kure S, Shinka T, Sakata Y, Osamu N, Takayanagi M, Tada K, Matsubara Y, Narisawa K.
    J Hum Genet; 1998; 43(2):135-7. PubMed ID: 9621520
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  • 5. Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.
    Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL.
    Pediatr Res; 1983 Dec; 17(12):967-70. PubMed ID: 6336599
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  • 6. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.
    Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan WL, Schmidt K, Packman S, Seashore MR, Haan E, Danks DM.
    J Pediatr; 1987 Jun; 110(6):873-7. PubMed ID: 3585602
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  • 7. 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 Jun; 17(1):76. PubMed ID: 11139253
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  • 11. 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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  • 16. Prenatal diagnosis of non-ketotic hyperglycinaemia.
    Toone JR, Applegarth DA, Levy HL.
    J Inherit Metab Dis; 1992 Apr; 15(5):713-9. PubMed ID: 1434509
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  • 18. First-trimester prenatal diagnosis of non-ketotic hyperglycinaemia by a micro assay of glycine cleavage enzyme.
    Rolland MO, Mandon G, Mathieu M.
    Prenat Diagn; 1993 Aug; 13(8):771-2. PubMed ID: 8284296
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  • 19. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
    Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO.
    Mol Genet Metab; 2017 Jun; 121(2):80-82. PubMed ID: 28462797
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  • 20. 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
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