Shen L - Search Results

1

Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.

Wu S, Shen L, Chen Q, Gong C, Yang Y, Wei H, Cao B, Chen Y. Wu S, et al. Among authors: shen l. Front Genet. 2022 Mar 4;12:816779. doi: 10.3389/fgene.2021.816779. eCollection 2021. Front Genet. 2022. PMID: 35308163 Free PMC article.

2

[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].

Wu S, Chen Y, Chen Q, Shen L, Wei H. Wu S, et al. Among authors: shen l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1356-1359. doi: 10.3760/cma.j.cn511374-20191223-00656. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 33306821 Chinese.

3

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.

Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Yu Y, Gu X, Han L. Liang L, et al. Among authors: shen l. Orphanet J Rare Dis. 2021 Jan 7;16(1):22. doi: 10.1186/s13023-020-01632-0. Orphanet J Rare Dis. 2021. PMID: 33413471 Free PMC article.

4

[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].

Wu S, Chen Q, Shen L, Wei H, Chen Y. Wu S, et al. Among authors: shen l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):59-62. doi: 10.3760/cma.j.cn511374-20191107-00563. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423260 Chinese.

5

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.

Yang H, Wei H, Shen L, Kumar C S, Chen Q, Chen Y, Kumar SA. Yang H, et al. Among authors: shen l. Eur J Med Genet. 2021 May;64(5):104192. doi: 10.1016/j.ejmg.2021.104192. Epub 2021 Mar 23. Eur J Med Genet. 2021. PMID: 33766795

6

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L. Yu Y, et al. Among authors: shen l. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.

7

Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.

Wang S, Wei H, Fu D, Liu X, Shen L, Wu S, Chen Y. Wang S, et al. Among authors: shen l. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):494-499. doi: 10.3724/zdxbyxb-2021-0268. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704418 Free PMC article. English.

8

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.

Liang L, Ling S, Yu Y, Shuai R, Qiu W, Zhang H, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Gong Z, Chen T, Zhan X, Gu X, Han L. Liang L, et al. Among authors: shen l. J Med Genet. 2023 Dec 21;61(1):8-17. doi: 10.1136/jmg-2022-108682. J Med Genet. 2023. PMID: 37316190

9

Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature.

Shen LH, Cui Y, Fu DX, Yang W, Wu SN, Wang HZ, Yang HH, Chen YX, Wei HY. Shen LH, et al. World J Diabetes. 2024 Aug 15;15(8):1811-1819. doi: 10.4239/wjd.v15.i8.1811. World J Diabetes. 2024. PMID: 39192869 Free PMC article.

10

[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].

Yu Y, Shen LH, Qiu WJ, Zhang HW, Ye J, Liang LL, Wang Y, Ji WJ, Gu XF, Han LS. Yu Y, et al. Among authors: shen lh. Zhonghua Yi Xue Za Zhi. 2021 Apr 13;101(14):1041-1044. doi: 10.3760/cma.j.cn112137-20200724-02206. Zhonghua Yi Xue Za Zhi. 2021. PMID: 33845545 Chinese.

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

13,572 results

Search Page

Filters