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Results: 1 to 20 of 139

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
[PubMed - indexed for MEDLINE]
2.
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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
16601880
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
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;84(2):167-71. Epub 2004 Nov 23.

PMID:
15670722
[PubMed - indexed for MEDLINE]
7.

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

Applegarth DA, Toone JR.

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

PMID:
11592811
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Genomic organization of the murine aminomethyltransferase gene (Amt).

Backofen B, Leeb T.

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

PMID:
12487019
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
10798358
[PubMed - indexed for MEDLINE]
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;56(1):139-43.

PMID:
15236413
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.

Lee HH, Kim DJ, Ahn HJ, Ha JY, Suh SW.

J Biol Chem. 2004 Nov 26;279(48):50514-23. Epub 2004 Sep 7.

PMID:
15355973
[PubMed - indexed for MEDLINE]
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