Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795824
3.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043187
4.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873612
5.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
6.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 19(1): 104-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362913
7.
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Mol Genet Metab
; 121(2): 80-82, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462797
8.
Successful HCV genotyping of previously failed and low viral load specimens using an HCV RNA qualitative assay based on transcription-mediated amplification in conjunction with the line probe assay.
J Clin Virol
; 28(1): 14-26, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12927747
9.
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.
Genet Med
; 10(11): 845-7, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18941415
10.
Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.
Pediatr Neurol
; 79: e1, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29239742
11.
Pharmacogenetic warfarin dose refinements remain significantly influenced by genetic factors after one week of therapy.
Thromb Haemost
; 107(2): 232-40, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22186998