Lin Y - Search Results

1

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Li X, Lu Z, Lin Y, Lu X, Xu Y, Cheng J, Shao Y, Su X, Liu Z, Sheng H, Cai Y, Li T, Zhou Z, Tan J, Liu H, Huang Y, Liu L, Zeng C. Li X, et al. Among authors: lin y. Am J Med Genet A. 2019 Aug;179(8):1451-1458. doi: 10.1002/ajmg.a.61254. Epub 2019 Jun 6. Am J Med Genet A. 2019. PMID: 31172689

2

Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

Zhang W, Zhou Z, Li X, Huang Y, Li T, Lin Y, Shao Y, Hu H, Liu H, Liu L. Zhang W, et al. Among authors: lin y. Neurosci Lett. 2017 Mar 22;644:48-54. doi: 10.1016/j.neulet.2017.01.019. Epub 2017 Jan 10. Neurosci Lett. 2017. PMID: 28087438

3

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Jiang M, Liu S, Jiang H, Lin Y, Shao Y, Hu H, Zhao X, Liu H, Huang Y, Liu L. Jiang M, et al. Among authors: lin y. Metab Brain Dis. 2017 Apr;32(2):317-320. doi: 10.1007/s11011-017-9968-5. Epub 2017 Feb 25. Metab Brain Dis. 2017. PMID: 28238202

4

Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.

Lin Y, Xu A, Zeng C, Cheng J, Li N, Niu H, Liu L, Li X. Lin Y, et al. Eur J Immunol. 2018 May;48(5):885-887. doi: 10.1002/eji.201747445. Epub 2018 Feb 23. Eur J Immunol. 2018. PMID: 29400909 Free article.

5

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).

Li X, Ting TH, Sheng H, Liang CL, Shao Y, Jiang M, Xu A, Lin Y, Liu L. Li X, et al. Among authors: lin y. BMC Pediatr. 2018 Mar 6;18(1):101. doi: 10.1186/s12887-018-1060-8. BMC Pediatr. 2018. PMID: 29510678 Free PMC article.

6

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.

Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X, Zhao X, Sheng H, Yin X, Su X, Shao Y, Liu Z, Li D, Li F, Liao C, Liu L. Li D, et al. Among authors: lin y. Prenat Diagn. 2018 Sep;38(10):779-787. doi: 10.1002/pd.5329. Epub 2018 Jul 17. Prenat Diagn. 2018. PMID: 29966168

7

Corrigendum for Li D, Lin Y, Huang Y, et al (2018) https://doi.org/10.1002/pd.5329.

Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X, Zhao X, Sheng H, Yin X, Su X, Shao Y, Liu Z, Li D, Li F, Liao C, Liu L. Li D, et al. Among authors: lin y. Prenat Diagn. 2019 Jan;39(1):57. doi: 10.1002/pd.5387. Prenat Diagn. 2019. PMID: 30632198 No abstract available.

8

Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.

Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y. Zhang W, et al. Among authors: lin y. Clin Chim Acta. 2019 Apr;491:114-120. doi: 10.1016/j.cca.2019.01.009. Epub 2019 Jan 11. Clin Chim Acta. 2019. PMID: 30639582

9

A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.

Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L. Jiang X, et al. Among authors: lin y. Metabolism. 2019 May;94:96-104. doi: 10.1016/j.metabol.2019.02.001. Epub 2019 Feb 10. Metabolism. 2019. PMID: 30742839

10

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.

Su X, Shao Y, Lin Y, Zhao X, Zhang W, Jiang M, Huang Y, Zeng C, Liu L, Li X. Su X, et al. Among authors: lin y. J Clin Lipidol. 2019 Mar-Apr;13(2):246-250. doi: 10.1016/j.jacl.2019.01.007. Epub 2019 Jan 22. J Clin Lipidol. 2019. PMID: 30782472

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