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Items: 1 to 20 of 147

1.

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

Toone JR, Applegarth DA, Coulter-Mackie MB, James ER.

Mol Genet Metab. 2000 Jun;70(2):116-21.

PMID:
10873393
3.

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y.

J Hum Genet. 2001;46(7):378-84.

PMID:
11450847
4.

Two novel missense mutations observed in nonketotic hyperglycinemia.

Yoon IA, Lee NM, Yoo BH, Lee BS, Yoo HW.

Pediatr Neurol. 2012 Jun;46(6):401-3. doi: 10.1016/j.pediatrneurol.2012.03.002.

PMID:
22633639
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. Epub 2004 Nov 23.

PMID:
15670722
6.

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

Applegarth DA, Toone JR.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. Review.

PMID:
11592811
7.

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.

PMID:
16450403
8.

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y.

Ann Neurol. 2002 Nov;52(5):643-6.

PMID:
12402263
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.

PMID:
12948742
11.

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.

PMID:
15824356
12.

Genomic organization of the murine aminomethyltransferase gene (Amt).

Backofen B, Leeb T.

DNA Seq. 2002 Aug;13(4):179-83.

PMID:
12487019
13.

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.

PMID:
15192636
14.
15.

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.

PMID:
15236413
16.

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.

PMID:
15851735
17.

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. doi: 10.1016/j.pediatrneurol.2010.05.025.

PMID:
20933183
18.

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.

PMID:
6336599
20.

Structure and expression of the glycine cleavage system in rat central nervous system.

Sakata Y, Owada Y, Sato K, Kojima K, Hisanaga K, Shinka T, Suzuki Y, Aoki Y, Satoh J, Kondo H, Matsubara Y, Kure S.

Brain Res Mol Brain Res. 2001 Oct 19;94(1-2):119-30.

PMID:
11597772

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