Sheng H - Search Results

1

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

Su X, Sheng H, Huang Y, Li X, Zhang W, Zhao X, Li C, Liu L. Su X, et al. Among authors: sheng h. Eur J Med Genet. 2020 Dec;63(12):103997. doi: 10.1016/j.ejmg.2020.103997. Epub 2020 Jul 22. Eur J Med Genet. 2020. PMID: 32711049

2

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.

Jiang M, Liu L, Peng M, Liang C, Sheng H, Cai Y. Jiang M, et al. Among authors: sheng h. J Pediatr Endocrinol Metab. 2012;25(7-8):795-7. doi: 10.1515/jpem-2012-0185. J Pediatr Endocrinol Metab. 2012. PMID: 23155713 Free article.

3

[Wolman disease with novel mutation of LIPA gene in a Chinese infant].

Huang YL, Sheng HY, Zhao XY, Yu JK, Li L, Liu HS, Gu CM, He DM, Liu L. Huang YL, et al. Zhonghua Er Ke Za Zhi. 2012 Aug;50(8):601-5. Zhonghua Er Ke Za Zhi. 2012. PMID: 23158738 Chinese.

4

Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization.

Peng M, Liu L, Jiang M, Liang C, Zhao X, Cai Y, Sheng H, Ou Z, Luo H. Peng M, et al. Among authors: sheng h. J Chromatogr B Analyt Technol Biomed Life Sci. 2013 Aug 1;932:12-8. doi: 10.1016/j.jchromb.2013.05.028. Epub 2013 Jun 2. J Chromatogr B Analyt Technol Biomed Life Sci. 2013. PMID: 23816563

5

[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].

Liang CL, Liu L, Sheng HY, Jiang MY, Yin X, Mei HF, Cheng J, Zhang W, Fan LP. Liang CL, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2013 Aug;15(8):661-5. Zhongguo Dang Dai Er Ke Za Zhi. 2013. PMID: 23965881 Free article. Chinese.

6

Molecular genetic assay of mucopolysaccharidosis IVA in South China.

He D, Huang Y, Ou Z, Sheng H, Li S, Zhao X, Li R, Zheng J, Liu L. He D, et al. Among authors: sheng h. Gene. 2013 Dec 10;532(1):46-52. doi: 10.1016/j.gene.2013.08.097. Epub 2013 Sep 11. Gene. 2013. PMID: 24035930

7

[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

Zheng J, Huang Y, Zhao X, Sheng H, Cheng J, Zhou Z, Li X, Mao X, Liu L. Zheng J, et al. Among authors: sheng h. Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):403-8. Zhonghua Er Ke Za Zhi. 2014. PMID: 25190157 Chinese.

8

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.

Cai YN, Jiang MY, Liang CL, Peng MZ, Cheng J, Sheng HY, Fan LP, Chen XQ, Liu L. Cai YN, et al. J Pediatr Endocrinol Metab. 2015 May;28(5-6):725-9. doi: 10.1515/jpem-2013-0441. J Pediatr Endocrinol Metab. 2015. PMID: 25423669

9

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].

Wu M, Liu L, Cai Y, Sheng H, Cheng J, Li X, Yin X, Lu Z, Lin R, Zhou Z, Fan L, Liu H. Wu M, et al. Among authors: sheng h. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):863-6. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582476 Chinese.

10

[Maturity-onset diabetes of the young 2 with a novel mutation of glucokinase gene in a Chinese boy and the clinical follow-up].

Li X, Liu L, Liang C, Sheng H, Zhao X. Li X, et al. Among authors: sheng h. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):867-71. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582477 Chinese.

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