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Items: 1 to 20 of 203

1.

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
2.

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S.

J Med Genet. 2007 Mar;44(3):e69.

3.

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
4.

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan A, Hean TS, Syed Zakaria SZ, Lock-Hock N.

J Hum Genet. 2014 Nov;59(11):593-7. doi: 10.1038/jhg.2014.69. Epub 2014 Sep 18.

PMID:
25231368
6.
7.

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
8.

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
9.

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S.

Ann Neurol. 2006 Feb;59(2):411-5.

PMID:
16404748
10.

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
11.

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
13.

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
14.

Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.

Chang CY, Lin SP, Lin HY, Chuang CK, Ho CS, Hsu CH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):35-7.

PMID:
18581728
15.

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
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
17.

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
18.

Delivery of a normal baby after preimplantation genetic diagnosis for non-ketotic hyperglycinaemia.

Hellani A, Sammour A, Johansson L, El-Sheikh A.

Reprod Biomed Online. 2008 Jun;16(6):893-7.

PMID:
18549703
19.

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S.

J Child Neurol. 2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24.

PMID:
23349517
20.

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
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