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Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

Kim JY, Park SS, Yang HR

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal...
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Acquired Hepatocerebral Degeneration in the Absence of Portosystemic Shunting

Caranci G, Cordano C, Giannini E, Bandini F

No abstract available.
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Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Shim JO, Yang HR, Moon JS, Chang JY, Ko JS, Park SS, Seo JK

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful...
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A Case of Penicillamine-induced Dermopathy in Wilson's Disease

Kim HS, Kim JI, Nam JH, Lee GY, Kim WS

  • KMID: 2436679
  • Korean J Dermatol.
  • 2018 Mar;56(3):223-225.
No abstract available.
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Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature

Bhatnagar , Lingaiah P, Lodhi JS, Karkhur Y

Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD,...
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The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria

Khan S, Schilsky M, Silber G, Morgenstern B, Miloh T

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal...
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Wilson Disease Misdiagnosed as Bipolar Disorder

Moon W, Ahn YM

Various psychiatric symptoms, including depressive mood, cognitive dysfunction, and psychosis, have been observed in the course of Wilson disease, however both domestic and international case reports on Wilson disease presenting...
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Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment

Boga S, Jain D, Schilsky M

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4...
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Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease

Kim JA, Kim HJ, Cho JM, Oh SH, Lee BH, Kim GH, Choi JH, Kim KM, Yoo HW

PURPOSE: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured...
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Successful pregnancy outcome in a Korean patient with symptomatic Wilson's disease

Lee HJ, Seong WJ, Hong SY, Bae JY

Wilson's disease is an inherited disease of copper metabolism leading to the toxic accumulation of copper, primarily in the liver and brain. Although the literature shows successful outcomes after proper...
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Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

Rukunuzzaman M

PURPOSE: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. METHODS: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period...
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Fracture in a Young Male Patient Leading to the Diagnosis of Wilson's Disease: A Case Report

Shin JJ, Lee JP, Rah JH

Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal...
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Penicillamine-induced toxic epidermal necrolysis in a patient with Wilson disease

Lee YI, Lee MY, Park YT, Park CH, Sung JY, Seo HS, Choi SW

Toxic epidermal necrolysis (TEN) is rare but life-threatening severe cutaneous adverse reaction, which is mostly induced by drugs. It characterized by widespread epidermal necrosis, resulting in bullae with sloughing and...
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Brain MRI, Tc-99m HMPAO SPECT and F-18 FP-CIT PET/CT Findings in a Patient with Wilson Disease: A Case Report

Kim S, Song IU, Chung YA, Choi EK, Oh JK

A 34-year-old female had experienced head and hand tremors with a dystonic component for 8 months. Brain MRI showed T2 high signal intensity in the periaqueductal region, dorsal midbrain and...
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Multiple Osteochondritis Dissecans of Knee Joint in a Patient with Wilson Disease, Focusing on Magnetic Resonance Findings

Park NH, Kim HS, Yi SY, Min BC

A 17-year-old man was admitted with a complaint of knee pain. He was diagnosed with Wilson disease by ophthalmologic and laboratory studies during hospitalization. Initial plain radiography of both knees...
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Acquired Hepatocerebral Degeneration Presenting with Downbeat Nystagmus and Ataxia: A Case Report

Lee CM, Yu HJ, Ryu JA, Kim JI

  • KMID: 2185264
  • J Korean Neurol Assoc.
  • 2007 Feb;25(1):101-104.
Nystagmus or ataxia is a rare manifestation of acquired hepatocerebral degeneration (AHCD). A 49-year-old woman presented with downbeat nystagmus and limb and gait ataxia. She was diagnosed as primary biliary...
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Hemolytic Crisis Recovered by Exchange Transfusion in a Child with Fulminant Wilson's Disease

Choi HJ, Lim HR, Choe BH

  • KMID: 2275271
  • Korean J Pediatr Gastroenterol Nutr.
  • 2006 Mar;9(1):108-113.
In case of Wilson's disease complicated with hemolytic anemia and fulminant hepatic failure; plasma exchange or liver transplantation should be considered. We report an 11 year-old male with fulminant Wilson's...
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A case of Breast Gigantism in a Patient with Wilson's Disease treated by Penicillamine

Lee JE, Shin HJ, Hwang SE, Hwang KT, Oh SK, Youn YK, Noh DY, Kim SW, Han W

We report a case of breast gigantism in a patient with Wilson's disease treated with penicillamine. A 19-year-old female with alleged Wilson's disease visited our hospital due to diffuse enlargement...
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A Korean Family with Wilson Disease Occurred in Two Consecutive Generations

Choi JS, Lee JH, Ki CS

Wilson disease (WD) is one of the most common inborn errors of metabolism characterized by degenerative changes in the brain, liver and kidney dysfunction, and Kayser-Fleischer rings due to toxic...
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Wilson disease

Lee JS

  • KMID: 2168067
  • Hanyang Med Rev.
  • 2005 Aug;25(3):4-11.
Wilson disease is an autosomal recessive disorder caused by a deficient ATP7B activity. Copper is an important mineral in the body involved in mitochondrial respiration, melanin biosynthesis, dopamin metabolism, iron...
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