Detalhe da pesquisa
1.
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.
Clin Lab
; 70(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623669
2.
Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.
Clin Lab
; 70(5)2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747911
3.
Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 290-297, 2022 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207828
4.
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
5.
Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 506-513, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704407
6.
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
7.
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
8.
Correlation Between Maternal and Fetal Insulin Resistance in Pregnant Women with Gestational Diabetes Mellitus.
Clin Lab
; 64(6): 945-953, 2018 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29945326
9.
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Int J Neonatal Screen
; 10(2)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651393
10.
Association of the retinol to all-trans retinoic acid pathway with autism spectrum disorder.
World J Pediatr
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38789720
11.
Anticonvulsant activity of acute and chronic treatment with a-asarone from Acorus gramineus in seizure models.
Biol Pharm Bull
; 36(1): 23-30, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23075695
12.
Prolonged Anesthesia Induction to Delivery Time Did Not Influence Plasma Remifentanil Concentration in Neonates.
Drug Des Devel Ther
; 17: 1395-1403, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188282
13.
Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.
Front Pediatr
; 11: 1185802, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37252044
14.
Anesthetic drug concentrations and placental transfer rate in fetus between term and preterm infants, twins, and singletons.
Front Pharmacol
; 14: 1213734, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37719861
15.
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
World J Pediatr
; 19(7): 663-673, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847978
16.
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
JAMA Netw Open
; 6(9): e2331162, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656460
17.
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Front Genet
; 13: 783799, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35309121
18.
Changes in Vitamin A Levels and the Effect of Early Vitamin A Supplementation on Vitamin A Levels in Infants Throughout the First 6 Months of Life: A Prospective Cohort Study in Chongqing, China.
Front Public Health
; 9: 650823, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987163
19.
Efficacy and Safety of Levetiracetam vs. Phenobarbital for Neonatal Seizures: A Systematic Review and Meta-Analysis.
Front Neurol
; 12: 747745, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34867732
20.
Examining the Effector Mechanisms of the Feishu Acupoint (BL13) in the Treatment of Pneumonia Based on Systematic Acupuncture and Moxibustion Research.
Evid Based Complement Alternat Med
; 2021: 5578104, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34306143