Detalhe da pesquisa
1.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Pediatr Res
; 64(3): 228-33, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18414141
2.
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
J Hum Genet
; 51(5): 455-460, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16596322
3.
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Biochem Biophys Res Commun
; 338(3): 1547-50, 2005 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16274669
4.
Glycine cleavage system in neurogenic regions.
Eur J Neurosci
; 19(9): 2365-70, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15128390
5.
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
J Pediatr
; 144(6): 827-9, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15192636
6.
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Mol Genet Metab
; 76(3): 243-9, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12126939
7.
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.
Hum Mol Genet
; 12(9): 995-1004, 2003 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12700168
8.
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Ann Neurol
; 56(1): 139-43, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15236413
9.
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Ann Neurol
; 52(5): 643-6, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12402263
10.
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Mol Genet Metab
; 81(4): 343-6, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15059622