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Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing

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참고문헌 (10)

  1. Tanzi RE, "The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene", Nat Genet, 5, pp.344~350 (1993)
  2. Rosencrantz R, "Wilson disease : pathogenesis and clinical considerations in diagnosis and treatment", Semin Liver Dis, 31, pp.245~259 (2011)
  3. Prashanth LK, "Wilson’s disease : diagnostic errors and clinical implications", J Neurol Neurosurg Psychiatry, 75, pp.907~909 (2004)
  4. Poujois A, "Challenges in the diagnosis of Wilson disease", Ann Transl Med, 7(S2), pp.S67~ (2019)
  5. Ye S, "Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: a case report", Medicine (Baltimore), 96, pp.e8641~ (2017)
  6. Kim TJ, "MR imaging of the brain in Wilson disease of childhood : findings before and after treatment with clinical correlation", AJNR Am J Neuroradiol, 27, pp.1373~1378 (2006)
  7. McKenna A, "The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data", Genome Res, 20, pp.1297~1303 (2010)
  8. Ferenci P, "Diagnosis and phenotypic classification of Wilson disease", Liver Int, 23, pp.139~142 (2003)
  9. Ala A, "Wilson’s disease", Lancet, 369, pp.397~408 (2007)
  10. Jang JH, "Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach", J Hum Genet, 62, pp.815~818 (2017)

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