Li X - 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: li c, li x. 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

[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].

Li D, Liu L, Li XZ, Cheng J, Zhao XY, Zhou R. Li D, et al. Zhonghua Er Ke Za Zhi. 2006 Nov;44(11):865-8. Zhonghua Er Ke Za Zhi. 2006. PMID: 17274881 Chinese.

3

[Complex glycerol kinase deficiency in three children].

Li XZ, Liu L, Mei HF. Li XZ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2007 Oct;9(5):441-4. Zhongguo Dang Dai Er Ke Za Zhi. 2007. PMID: 17937854 Chinese.

4

[Persistent hyperinsulinemic hypoglycemia of infancy: clinical analysis of 12 cases].

Wu AW, Liu L, Li XZ, Cheng J, Zhou ZH, Zhang W. Wu AW, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2009 Oct;11(10):809-12. Zhongguo Dang Dai Er Ke Za Zhi. 2009. PMID: 19849938 Free article. Chinese.

5

[Neonatal diabetes mellitus: a clinical analysis of 13 cases].

Li XZ, Zhang XH, Liu L, Cheng J, Zhang W. Li XZ, et al. Zhonghua Er Ke Za Zhi. 2010 Oct;48(10):775-8. Zhonghua Er Ke Za Zhi. 2010. PMID: 21176489 Chinese.

6

[Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].

Mo WQ, Liu L, Chen YY, Cheng J, Li XZ, Zhou ZH, Mao XJ, Zhang W. Mo WQ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Jun;28(3):328-31. doi: 10.3760/cma.j.issn.1003-9406.2011.03.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21644234 Chinese.

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

8

[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: li x. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):863-6. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582476 Chinese.

9

[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. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):867-71. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582477 Chinese.

10

[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. Among authors: li x. Zhonghua Er Ke Za Zhi. 2014 Dec;52(12):948-51. Zhonghua Er Ke Za Zhi. 2014. PMID: 25619355 Chinese.

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