Chen H - Search Results

1

Prenatal Diagnosis of Tay-Sachs Disease.

Zhang J, Chen H, Kornreich R, Yu C. Zhang J, et al. Among authors: chen h. Methods Mol Biol. 2019;1885:233-250. doi: 10.1007/978-1-4939-8889-1_16. Methods Mol Biol. 2019. PMID: 30506202

2

Urinary Succinylacetone Analysis by Gas Chromatography-Mass Spectrometry (GC-MS).

Chen H, Yu C. Chen H, et al. Methods Mol Biol. 2016;1378:281-90. doi: 10.1007/978-1-4939-3182-8_30. Methods Mol Biol. 2016. PMID: 26602140

3

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.

Violante S, Achetib N, van Roermund CWT, Hagen J, Dodatko T, Vaz FM, Waterham HR, Chen H, Baes M, Yu C, Argmann CA, Houten SM. Violante S, et al. Among authors: chen h. FASEB J. 2019 Mar;33(3):4355-4364. doi: 10.1096/fj.201801498R. Epub 2018 Dec 12. FASEB J. 2019. PMID: 30540494 Free PMC article.

., van Roermund, C. W. T., Hagen, J., Dodatko, T., Vaz, F. M., Waterham, H. R., Chen, H., Baes, M., Yu, C., Argmann, C. A., Houten, S. M. ...

., van Roermund, C. W. T., Hagen, J., Dodatko, T., Vaz, F. M., Waterham, H. R., Chen, H., Baes, M., Yu, C., Argmann, C. …

4

[Recommendation for standardized certification of the directors of genetic diagnostics laboratories].

Li Y, Mao L, Chen H, Gu S, He X, Yu C, Chen T. Li Y, et al. Among authors: chen t, chen h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jan 10;36(1):32-36. doi: 10.3760/cma.j.issn.1003-9406.2019.01.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30722090 Chinese. No abstract available.

5

Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.

Leandro J, Dodatko T, DeVita RJ, Chen H, Stauffer B, Yu C, Houten SM. Leandro J, et al. Among authors: chen h. J Inherit Metab Dis. 2020 Nov;43(6):1154-1164. doi: 10.1002/jimd.12276. Epub 2020 Jul 26. J Inherit Metab Dis. 2020. PMID: 32567100

6

Murine deficiency of peroxisomal L-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis.

Ranea-Robles P, Violante S, Argmann C, Dodatko T, Bhattacharya D, Chen H, Yu C, Friedman SL, Puchowicz M, Houten SM. Ranea-Robles P, et al. Among authors: chen h. Cell Mol Life Sci. 2021 Jul;78(14):5631-5646. doi: 10.1007/s00018-021-03869-9. Epub 2021 Jun 10. Cell Mol Life Sci. 2021. PMID: 34110423 Free PMC article.

7

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.

Ranea-Robles P, Chen H, Stauffer B, Yu C, Bhattacharya D, Friedman SL, Puchowicz M, Houten SM. Ranea-Robles P, et al. Among authors: chen h. J Inherit Metab Dis. 2021 Nov;44(6):1419-1433. doi: 10.1002/jimd.12440. Epub 2021 Oct 2. J Inherit Metab Dis. 2021. PMID: 34564857 Free PMC article.

8

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.

Houten SM, Dodatko T, Dwyer W, Violante S, Chen H, Stauffer B, DeVita RJ, Vaz FM, Cross JR, Yu C, Leandro J. Houten SM, et al. Among authors: chen h. J Inherit Metab Dis. 2023 Sep;46(5):931-942. doi: 10.1002/jimd.12642. Epub 2023 Jun 19. J Inherit Metab Dis. 2023. PMID: 37309295

9

Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.

Oishi K, Siegel C, Cork EE, Chen H, Imagawa E. Oishi K, et al. Among authors: chen h. J Hum Genet. 2021 Mar;66(3):321-325. doi: 10.1038/s10038-020-00823-8. Epub 2020 Sep 9. J Hum Genet. 2021. PMID: 32908218

10

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.

Huang M, Zhang Q, Jiao J, Shi J, Xu Y, Zhang C, Zhou R, Liu W, Liang Y, Chen H, Wang Y, Xu Z, Hu P. Huang M, et al. Among authors: chen h. J Transl Med. 2024 May 13;22(1):451. doi: 10.1186/s12967-024-05259-8. J Transl Med. 2024. PMID: 38741136

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

88,202 results

Search Page