Huang Y - Search Results

1

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Zeng C, Lin Y, Lu Z, Chen Z, Jiang X, Mao X, Liu Z, Lu X, Zhang K, Yu Q, Wang X, Huang Y, Liu L. Zeng C, et al. Among authors: huang y. BMC Musculoskelet Disord. 2020 Mar 6;21(1):154. doi: 10.1186/s12891-020-3181-0. BMC Musculoskelet Disord. 2020. PMID: 32143606 Free PMC article. Review.

2

[Mucopolysaccharidosis VII: report of a case and review of the literature].

Huang YL, Li SY, Zhao XY, Liu HS, Ou XB, Liu L. Huang YL, et al. Zhonghua Er Ke Za Zhi. 2011 Jun;49(6):455-8. Zhonghua Er Ke Za Zhi. 2011. PMID: 21924061 Review. Chinese.

3

[Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis].

Huang YL, Li SY, Zhao XY, Fan LP, Lin WC, Zhou ZH, Cheng J, Liu L. Huang YL, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2012 Jul;14(7):510-4. Zhongguo Dang Dai Er Ke Za Zhi. 2012. PMID: 22809603 Free article. Chinese.

4

[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.

5

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: huang y. Gene. 2013 Dec 10;532(1):46-52. doi: 10.1016/j.gene.2013.08.097. Epub 2013 Sep 11. Gene. 2013. PMID: 24035930

6

Separation and identification of underivatized plasma acylcarnitine isomers using liquid chromatography-tandem mass spectrometry for the differential diagnosis of organic acidemias and fatty acid oxidation defects.

Peng M, Fang X, Huang Y, Cai Y, Liang C, Lin R, Liu L. Peng M, et al. Among authors: huang y. J Chromatogr A. 2013 Dec 6;1319:97-106. doi: 10.1016/j.chroma.2013.10.036. Epub 2013 Oct 16. J Chromatogr A. 2013. PMID: 24169039

7

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].

Huang Y, Xie T, Zheng J, Zhao X, Liu H, Liu L. Huang Y, et al. Zhonghua Er Ke Za Zhi. 2014 Apr;52(4):313-6. Zhonghua Er Ke Za Zhi. 2014. PMID: 24915922 Chinese.

8

[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: huang y. Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):403-8. Zhonghua Er Ke Za Zhi. 2014. PMID: 25190157 Chinese.

9

[A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].

Huang Y, Zheng J, Xie T, Xiao Q, Lu S, Li X, Cheng J, Chen L, Liu L. Huang Y, et al. Zhonghua Er Ke Za Zhi. 2014 Dec;52(12):948-51. Zhonghua Er Ke Za Zhi. 2014. PMID: 25619355 Chinese.

10

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

Xie T, Zheng JP, Huang YL, Fan C, Wu DY, Tan MY, Li XZ, Cheng J, Liu L. Xie T, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2015 May;17(5):472-6. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 26014698 Free article. Chinese.

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