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Items: 1 to 20 of 158

1.

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.

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
5.

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

Applegarth DA, Toone JR.

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

PMID:
11592811
6.

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
7.

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
8.
9.

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
10.

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
11.

Genomic organization of the murine aminomethyltransferase gene (Amt).

Backofen B, Leeb T.

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

PMID:
12487019
12.

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
13.

Atypical variants of nonketotic hyperglycinemia.

Dinopoulos A, Matsubara Y, Kure S.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):61-9. Review.

PMID:
16157495
15.

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.

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
18.

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
19.

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
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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