논문KCI 등재
Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing
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참고문헌 (10)
- 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)
- Rosencrantz R, "Wilson disease : pathogenesis and clinical considerations in diagnosis and treatment", Semin Liver Dis, 31, pp.245~259 (2011)
- Prashanth LK, "Wilson’s disease : diagnostic errors and clinical implications", J Neurol Neurosurg Psychiatry, 75, pp.907~909 (2004)
- Poujois A, "Challenges in the diagnosis of Wilson disease", Ann Transl Med, 7(S2), pp.S67~ (2019)
- 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)
- 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)
- McKenna A, "The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data", Genome Res, 20, pp.1297~1303 (2010)
- Ferenci P, "Diagnosis and phenotypic classification of Wilson disease", Liver Int, 23, pp.139~142 (2003)
- Ala A, "Wilson’s disease", Lancet, 369, pp.397~408 (2007)
- Jang JH, "Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach", J Hum Genet, 62, pp.815~818 (2017)
관련 논문AI추천
Spinocerebellar Ataxia Type 34: ELOVL4 Recurrent Mutation in a Different FamilyKarim Makhoul, Ritesh Ramdhani대한신경과학회 · Journal of Clinical Neurology2025 · 제21권 제4호뚜렷한 소뇌위축 없이 실조증을 보이는 제8형 척수소뇌실조증 환자김성근, 김성헌, 어용준, 장재원대한신경과학회 · 대한신경과학회지2017 · 제35권 제1호Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1안종현, Ja-Hyun Jang, Soo Ryun Park, Soyoun Choi대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제6호Bilateral Optic Neuropathy as the Prominent Manifestation of Wilson’s DiseaseShenyi Kuang, Shilin Yang, Xiang Han, Yiqin Xiao대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제4호Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report김난영, 김영은, 김윤중, 이민우, 허진영대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호Huntington’s Disease Presenting as Adult-Onset Parkinsonism곽인희, 김나희, 김영은, 마효일대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제1호
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