Wang Y - Search Results

1

[Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency].

Hong D, Wang Y, Sun Y, Ma D, Zhang Z, Cheng W, Jiang T. Hong D, et al. Among authors: wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):276-281. doi: 10.3760/cma.j.cn511374-20200922-00681. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315035 Chinese.

2

[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].

Sun Y, Jiang T, Ma D, Yang G, Yang B, Wang Y, Xu Z. Sun Y, et al. Among authors: wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):56-9. doi: 10.3760/cma.j.issn.1003-9406.2015.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636100 Chinese.

3

[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].

Sun Y, Ma D, Wang Y, Yang B, Jiang T. Sun Y, et al. Among authors: wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):98-101. doi: 10.3760/cma.j.issn.1003-9406.2017.01.023. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28186605 Chinese.

4

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.

Sun Y, Wang YY, Jiang T. Sun Y, et al. Among authors: wang yy. J Pediatr Endocrinol Metab. 2017 Aug 28;30(8):879-883. doi: 10.1515/jpem-2017-0002. J Pediatr Endocrinol Metab. 2017. PMID: 28753539

5

Combined detection of α-fetoprotein and free β-human chorionic gonadotropin in screening for trisomy 21 and management of cases in the moderate risk value range.

Li Y, Zhang X, Sun Y, Hong D, Wang Y, Xu Z, Jiang T. Li Y, et al. Among authors: wang y. Mol Clin Oncol. 2017 Oct;7(4):623-628. doi: 10.3892/mco.2017.1355. Epub 2017 Jul 31. Mol Clin Oncol. 2017. PMID: 28855995 Free PMC article.

6

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report.

Li Y, Ma D, Sun Y, Meng L, Wang Y, Jiang T. Li Y, et al. Among authors: wang y. Front Genet. 2018 May 17;9:181. doi: 10.3389/fgene.2018.00181. eCollection 2018. Front Genet. 2018. PMID: 29868125 Free PMC article.

7

A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.

Wang Y, Sun Y, Jiang T. Wang Y, et al. Front Pediatr. 2018 Aug 21;6:233. doi: 10.3389/fped.2018.00233. eCollection 2018. Front Pediatr. 2018. PMID: 30186825 Free PMC article.

8

[Clinical and genetic analysis of two children suspected for argininosuccinic aciduria].

Cheng W, Sun Y, Wang Y, Ma D, Jiang T. Cheng W, et al. Among authors: wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):443-446. doi: 10.3760/cma.j.issn.1003-9406.2019.05.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31030429 Chinese.

9

Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria.

Wang Y, Sun Y, Jiang T. Wang Y, et al. Adv Ther. 2019 Jun;36(6):1304-1313. doi: 10.1007/s12325-019-00955-0. Epub 2019 May 2. Adv Ther. 2019. PMID: 31049874

10

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay.

Wang Y, Sun Y, Liu M, Zhang X, Jiang T. Wang Y, et al. Front Genet. 2019 May 17;10:436. doi: 10.3389/fgene.2019.00436. eCollection 2019. Front Genet. 2019. PMID: 31156699 Free PMC article.

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