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Items: 1 to 20 of 233

3.

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
4.

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
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.

PMID:
6336599
6.

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
7.

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.

PMID:
9600239
8.

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
9.

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.

PMID:
9621520
10.

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, et al.

J Pediatr. 1987 Jun;110(6):873-7.

PMID:
3585602
11.

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
12.

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
13.

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Toone JR, Applegarth DA, Kure S, Coulter-Mackie MB, Sazegar P, Kojima K, Ichinohe A.

Mol Genet Metab. 2002 Jul;76(3):243-9.

PMID:
12126939
15.

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

Applegarth DA, Toone JR.

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

PMID:
11592811
17.

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.

PMID:
10451514
18.

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.

PMID:
8005589
19.

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
20.

Genomic organization of the murine aminomethyltransferase gene (Amt).

Backofen B, Leeb T.

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

PMID:
12487019

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