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Journal Abstract Search

320 related items for PubMed ID: 31172689

  • 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.
    Am J Med Genet A; 2019 Aug; 179(8):1451-1458. PubMed ID: 31172689
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
    Zhang T, Song W, Mao Z.
    BMC Pediatr; 2024 Sep 12; 24(1):576. PubMed ID: 39267050
    [Abstract] [Full Text] [Related]

  • 3. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
    Zhou XY, Yin HX, Wang CL, Liu ZF, Zheng BX, Jin Y.
    Zhonghua Gan Zang Bing Za Zhi; 2020 Jul 20; 28(7):603-607. PubMed ID: 32791797
    [Abstract] [Full Text] [Related]

  • 4. A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China.
    Xue Z, Chen H, Yu L, Jiang P.
    Pediatr Neurol; 2023 Aug 20; 145():135-147. PubMed ID: 37354629
    [Abstract] [Full Text] [Related]

  • 5. [Phenotypes and ATP7B gene variants in 316 children with Wilson disease].
    Lu ZK, Cheng J, Li SM, Lin YT, Zhang W, Li XZ, Sheng HY, Mao XJ, Mei HF, Zheng RD, Liang CL, Jiang MY, Huang YL, Liu L, Zeng CH.
    Zhonghua Er Ke Za Zhi; 2022 Apr 02; 60(4):317-322. PubMed ID: 35385937
    [Abstract] [Full Text] [Related]

  • 6. [Wilson disease: an update].
    Seo JK.
    Korean J Hepatol; 2006 Sep 02; 12(3):333-63. PubMed ID: 16998287
    [Abstract] [Full Text] [Related]

  • 7. Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
    Li M, Ma J, Wang W, Yang X, Luo K.
    BMC Gastroenterol; 2021 Sep 01; 21(1):339. PubMed ID: 34470610
    [Abstract] [Full Text] [Related]

  • 8. Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
    Jia S, Li X, Zhang W, Zhang B, Wu Z, Duan W, Ou X, Zhou D, Huang J.
    J Clin Lab Anal; 2022 Nov 01; 36(11):e24735. PubMed ID: 36253962
    [Abstract] [Full Text] [Related]

  • 9. Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
    Li H, Liu L, Li Y, He S, Liu Y, Li J, Tao R, Li W, Shang S.
    Medicine (Baltimore); 2018 Jul 01; 97(27):e11405. PubMed ID: 29979436
    [Abstract] [Full Text] [Related]

  • 10. Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
    Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
    J Hum Genet; 2013 Feb 01; 58(2):67-72. PubMed ID: 23235335
    [Abstract] [Full Text] [Related]

  • 11. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
    Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX.
    World J Gastroenterol; 2004 Feb 15; 10(4):590-3. PubMed ID: 14966923
    [Abstract] [Full Text] [Related]

  • 12. [Genotype and phenotype correlation in Chinese patients with Wilson's Disease].
    Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.
    Zhonghua Er Ke Za Zhi; 2003 Jan 15; 41(1):35-8. PubMed ID: 14761325
    [Abstract] [Full Text] [Related]

  • 13. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
    Cheng N, Wang H, Wu W, Yang R, Liu L, Han Y, Guo L, Hu J, Xu L, Zhao J, Han Y, Liu Q, Li K, Wang X, Chen W.
    Clin Genet; 2017 Jul 15; 92(1):69-79. PubMed ID: 27982432
    [Abstract] [Full Text] [Related]

  • 14. Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
    Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.
    Cell Mol Biol (Noisy-le-grand); 2001 Jul 15; 47 Online Pub():OL149-57. PubMed ID: 11936861
    [Abstract] [Full Text] [Related]

  • 15. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
    Tuan Pham LA, Nguyen TT, Nga Le HB, Tran DQ, Ho CT, Tran TH, Ta VT, Bui TH, Tran VK.
    J Genet; 2017 Dec 15; 96(6):933-939. PubMed ID: 29321352
    [Abstract] [Full Text] [Related]

  • 16. Wilson's disease in Sardinian population: The experience of a pediatric referral center.
    Loudianos G, Satta S, Lepori MB, Anni F, Balloi R, Soddu C, Fenu ML, Lilliu F, Nurchi AM, De Virgiliis S.
    J Pediatr Gastroenterol Nutr; 2024 Oct 15; 79(4):807-817. PubMed ID: 39113473
    [Abstract] [Full Text] [Related]

  • 17. Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
    García-Villarreal L, Hernández-Ortega A, Sánchez-Monteagudo A, Peña-Quintana L, Ramírez-Lorenzo T, Riaño M, Moreno-Pérez R, Monescillo A, González-Santana D, Quiñones I, Sánchez-Villegas A, Olmo-Quintana V, Garay-Sánchez P, Espinós C, González JM, Tugores A.
    J Gastroenterol; 2021 Jan 15; 56(1):78-89. PubMed ID: 33159804
    [Abstract] [Full Text] [Related]

  • 18. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
    Liu WL, Li F, Liu L, Chen W, He ZX, Gu H, Ai R.
    Mol Med Rep; 2020 Jan 15; 21(1):517-523. PubMed ID: 31746411
    [Abstract] [Full Text] [Related]

  • 19. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 15; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 20. Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
    Wang J, Tang L, Xu A, Zhang S, Jiang H, Pei P, Li H, Lv T, Yang Y, Qian N, Naidu K, Yang W.
    Medicine (Baltimore); 2021 Apr 23; 100(16):e25463. PubMed ID: 33879678
    [Abstract] [Full Text] [Related]

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