Detalhe da pesquisa
1.
Untargeted metabolomic analysis of urine samples for diagnosis of inherited metabolic disorders.
Funct Integr Genomics;
21(5-6): 645-653, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34585279
2.
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Hum Mutat;
41(1): 212-221, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31489982
3.
Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.
BMC Pediatr;
19(1): 344, 2019 10 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31597564
4.
A novel method for quantification of human hemoglobin from dried blood spots by use of tandem mass spectrometry.
Anal Bioanal Chem;
407(26): 8121-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26345440
5.
Urine real-time polymerase chain reaction detection for children virus pneumonia with acute human cytomegalovirus infection.
BMC Infect Dis;
14: 245, 2014 May 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24884393
6.
Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD.
Ren Fail;
36(5): 687-93, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24575920
7.
Simultaneous quantification of fat-soluble vitamins A, 25-hydroxylvitamin D and vitamin E in plasma from children using liquid chromatography coupled to Orbitrap mass spectrometry.
J Chromatogr B Analyt Technol Biomed Life Sci;
1177: 122795, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34098179
8.
Improving quality management of newborn screening in southwest China.
J Int Med Res;
49(4): 3000605211002999, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33823629
9.
Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.
Ann Transl Med;
9(3): 194, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33708821
10.
Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic.
Ann Transl Med;
8(7): 429, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32395473
11.
A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots.
J Proteomics;
154: 78-84, 2017 02 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28007617
12.
Investigation of Mycoplasma pneumoniae infection in pediatric population from 12,025 cases with respiratory infection.
Diagn Microbiol Infect Dis;
75(1): 22-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23040512