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228 related items for PubMed ID: 29979436

  • 1. 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; 97(27):e11405. PubMed ID: 29979436
    [Abstract] [Full Text] [Related]

  • 2. [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]

  • 3. 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]

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

  • 5. The dilemma to diagnose Wilson disease by genetic testing alone.
    Stättermayer AF, Entenmann A, Gschwantler M, Zoller H, Hofer H, Ferenci P.
    Eur J Clin Invest; 2019 Aug 12; 49(8):e13147. PubMed ID: 31169307
    [Abstract] [Full Text] [Related]

  • 6. 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 12; 56(1):78-89. PubMed ID: 33159804
    [Abstract] [Full Text] [Related]

  • 7. Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease.
    Dong Y, Wang RM, Yang GM, Yu H, Xu WQ, Xie JJ, Zhang Y, Chen YC, Ni W, Wu ZY.
    Clin Gastroenterol Hepatol; 2021 Mar 12; 19(3):590-596. PubMed ID: 32485301
    [Abstract] [Full Text] [Related]

  • 8. Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
    Sundaresan S, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.
    Med Sci Monit; 2007 Mar 12; 13(3):CS38-40. PubMed ID: 17325640
    [Abstract] [Full Text] [Related]

  • 9. Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
    Lirong J, Jianjun J, Hua Z, Guoqiang F, Yuhao Z, Xiaoli P, Xiaomin Z, Yuwen Z, Yu M, Jie C, Jihong D, Yueshi M, Zhenyao M, Chunjiu Z.
    Eur J Neurol; 2009 Oct 12; 16(10):1130-7. PubMed ID: 19572946
    [Abstract] [Full Text] [Related]

  • 10. 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 12; 179(8):1451-1458. PubMed ID: 31172689
    [Abstract] [Full Text] [Related]

  • 11. 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 12; 79(4):807-817. PubMed ID: 39113473
    [Abstract] [Full Text] [Related]

  • 12. Analysis of clinical and biochemical spectrum of Wilson disease patients.
    Mansoor S, Naveed AK, Majeed A.
    Indian J Pathol Microbiol; 2012 Oct 12; 55(3):365-9. PubMed ID: 23032833
    [Abstract] [Full Text] [Related]

  • 13. Phenotype and molecular characterization of Wilson's disease in Morocco.
    Abbassi N, Bourrahouat A, Bedoya EC, Pagan C, Qabli ME, Maidoumi S, Belmalih A, Guillaud O, Kissani N, Abkari A, Chahid I, Rafai MA, Mouane N, Kriouile Y, Aidi S, Hida M, Idrissi ML, Belahsen MF, Abkari ME, Rkain M, Ismaili Z, Sedki A, Bost M, Aboussair N, Lachaux A.
    Clin Res Hepatol Gastroenterol; 2024 May 12; 48(5):102335. PubMed ID: 38588792
    [Abstract] [Full Text] [Related]

  • 14. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.
    J Neurol Sci; 2012 Feb 15; 313(1-2):129-31. PubMed ID: 22075048
    [Abstract] [Full Text] [Related]

  • 15. [The diagnostic value and limits of diagnostic parameters for Wilson's disease].
    Yang X.
    Zhonghua Gan Zang Bing Za Zhi; 2017 Dec 20; 25(12):881-885. PubMed ID: 29325287
    [Abstract] [Full Text] [Related]

  • 16. Efficacy of Different Diagnostic Test for Identifying Wilson's Disease.
    Sonia ZF, Rukunuzzaman M, Karim MB, Yasmin A, Alam R.
    Mymensingh Med J; 2022 Jan 20; 31(1):117-123. PubMed ID: 34999690
    [Abstract] [Full Text] [Related]

  • 17. Wilson's disease: monocentric experiences over a period of 10 years [corrected].
    Prochazkova D, Pouchla S, Mejzlik V, Konecna P, Michalek J, Bartosova D, Hrstkova H.
    Klin Padiatr; 2009 Dec 20; 221(7):419-24. PubMed ID: 20013564
    [Abstract] [Full Text] [Related]

  • 18. Wilson disease in children: analysis of 57 cases.
    Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP.
    J Pediatr Gastroenterol Nutr; 2009 Jan 20; 48(1):72-7. PubMed ID: 19172127
    [Abstract] [Full Text] [Related]

  • 19. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
    Xu P, Liang X, Jankovic J, Le W.
    Arch Neurol; 2001 Nov 20; 58(11):1879-82. PubMed ID: 11708998
    [Abstract] [Full Text] [Related]

  • 20. 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 20; 21(1):517-523. PubMed ID: 31746411
    [Abstract] [Full Text] [Related]

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