Zhan X - Search Results

1

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H. Chang S, et al. Among authors: zhan x. JAMA Netw Open. 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. JAMA Netw Open. 2024. PMID: 38739391 Free PMC article.

2

[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].

Zhan X, Lin N, Zhang HW, Gao XL, Qiu WJ, Han LS, Ye J, Gu XF. Zhan X, et al. Zhonghua Er Ke Za Zhi. 2016 Jun 2;54(6):419-23. doi: 10.3760/cma.j.issn.0578-1310.2016.06.006. Zhonghua Er Ke Za Zhi. 2016. PMID: 27256227 Chinese.

3

Successful newborn screening for Gaucher disease using fluorometric assay in China.

Kang L, Zhan X, Gu X, Zhang H. Kang L, et al. Among authors: zhan x. J Hum Genet. 2017 Aug;62(8):763-768. doi: 10.1038/jhg.2017.36. Epub 2017 Mar 30. J Hum Genet. 2017. PMID: 28356566 Free PMC article.

4

A rare form of Gaucher disease resulting from saposin C deficiency.

Kang L, Zhan X, Ye J, Han L, Qiu W, Gu X, Zhang H. Kang L, et al. Among authors: zhan x. Blood Cells Mol Dis. 2018 Feb;68:60-65. doi: 10.1016/j.bcmd.2017.04.001. Epub 2017 Apr 3. Blood Cells Mol Dis. 2018. PMID: 28457694

5

Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Zhao S, Zhan X, Wang Y, Ye J, Han L, Qiu W, Gao X, Gu X, Zhang H. Zhao S, et al. Among authors: zhan x. Clin Genet. 2018 Feb;93(2):248-254. doi: 10.1111/cge.13071. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28598007

6

[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency].

Xu F, Han L, Qiu W, Zhang H, Ji W, Chen T, Zhan X, Ye J, Gu X. Xu F, et al. Among authors: zhan x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):199-202. doi: 10.3760/cma.j.issn.1003-9406.2019.03.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835345 Chinese.

7

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia.

Liang L, Ye J, Han L, Qiu W, Zhang H, Yu Y, Zhu T, Xu F, Zhan X, Bao P, Ji W, Gu X. Liang L, et al. Among authors: zhan x. J Clin Lab Anal. 2020 Mar;34(3):e23106. doi: 10.1002/jcla.23106. Epub 2019 Nov 24. J Clin Lab Anal. 2020. PMID: 31762087 Free PMC article.

8

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Dai M, Xiao B, Zhang H, Ye J, Qiu W, Zhu H, Wang L, Liang L, Zhan X, Ji W, Wang Y, Yu Y, Gu X, Han L. Dai M, et al. Among authors: zhan x. Orphanet J Rare Dis. 2020 Oct 7;15(1):276. doi: 10.1186/s13023-020-01539-w. Orphanet J Rare Dis. 2020. PMID: 33028371 Free PMC article.

9

[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease].

Zhan X, Zhang HW, Gao XL, Gu XF, Chen LJ, Guo RB. Zhan X, et al. Zhonghua Yi Xue Za Zhi. 2020 Nov 3;100(40):3169-3173. doi: 10.3760/cma.j.cn112137-20200717-02138. Zhonghua Yi Xue Za Zhi. 2020. PMID: 33142401 Chinese.

10

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D, Han F, Qiu W, Zhang H, Ye J, Liang L, Wang Y, Ji W, Zhan X, Gu X, Han L. Lu D, et al. Among authors: zhan x. Orphanet J Rare Dis. 2020 Dec 3;15(1):340. doi: 10.1186/s13023-020-01606-2. Orphanet J Rare Dis. 2020. PMID: 33272297 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

3,839 results

Search Page

Filters