136 related articles for article (PubMed ID: 9600239)
1. A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Kure S; Mandel H; Rolland MO; Sakata Y; Shinka T; Drugan A; Boneh A; Tada K; Matsubara Y; Narisawa K
Hum Genet; 1998 Apr; 102(4):430-4. PubMed ID: 9600239
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Nanao K; Okamura-Ikeda K; Motokawa Y; Danks DM; Baumgartner ER; Takada G; Hayasaka K
Hum Genet; 1994 Jun; 93(6):655-8. PubMed ID: 8005589
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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; 17(1):76. PubMed ID: 11139253
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
Kure S; Rolland MO; Leisti J; Mandel H; Sakata Y; Tada K; Matsubara Y; Narisawa K
Prenat Diagn; 1999 Aug; 19(8):717-20. PubMed ID: 10451514
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Toone JR; Applegarth DA; Levy HL; Coulter-Mackie MB; Lee G
Mol Genet Metab; 2003 Aug; 79(4):272-80. PubMed ID: 12948742
[TBL] [Abstract][Full Text] [Related]
10. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Kure S; Takayanagi M; Narisawa K; Tada K; Leisti J
J Clin Invest; 1992 Jul; 90(1):160-4. PubMed ID: 1634607
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
12. Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
Hiraga K; Kochi H; Hayasaka K; Kikuchi G; Nyhan WL
J Clin Invest; 1981 Aug; 68(2):525-34. PubMed ID: 6790577
[TBL] [Abstract][Full Text] [Related]
13. Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects.
Kure S; Tada K; Narisawa K
Jpn J Hum Genet; 1997 Mar; 42(1):13-22. PubMed ID: 9183995
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Prenatal diagnosis of non-ketotic hyperglycinaemia.
Toone JR; Applegarth DA; Levy HL
J Inherit Metab Dis; 1992; 15(5):713-9. PubMed ID: 1434509
[TBL] [Abstract][Full Text] [Related]
16. Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS; Kor D; Ceylaner S; Mert GG; Incecik F; Kartal E; Mungan NO
J Child Neurol; 2015 May; 30(6):789-92. PubMed ID: 24838951
[TBL] [Abstract][Full Text] [Related]
17. 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
[No Abstract] [Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.
Tada K; Kure S
J Inherit Metab Dis; 1993; 16(4):691-703. PubMed ID: 8412015
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]