Literature DB >> 31179297

Clinical presentations of Wilson disease.

Samuel Shribman1, Thomas T Warner1, James S Dooley2.   

Abstract

The main presenting features of Wilson disease, many of which mimic common hepatic and neurologic disorders, are discussed. There is a need for specialists in these and related fields to be aware of hints from within and, more importantly, outside their area of expertise that should alert them to consider the diagnosis. Delayed diagnosis and treatment are potentially damaging for the patient. The importance of recognising and promptly investigating Wilson disease at the initial presentation should be understood by all those who assess patients with hepatic or neurologic disorders and/or train others in their specialty.

Entities:  

Keywords:  Copper; Wilson disease (WD); Wilson’s disease (WD); lenticular degeneration; metabolic diseases

Year:  2019        PMID: 31179297      PMCID: PMC6531646          DOI: 10.21037/atm.2019.04.27

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


  85 in total

1.  Brain copper, iron, magnesium, zinc, calcium, sulfur and phosphorus storage in Wilson's disease.

Authors:  G Faa; M Lisci; M P Caria; R Ambu; R Sciot; V M Nurchi; R Silvagni; A Diaz; G Crisponi
Journal:  J Trace Elem Med Biol       Date:  2001       Impact factor: 3.849

2.  Oculogyric crisis as an initial manifestation of Wilson's disease.

Authors:  M S Lee; Y D Kim; C H Lyoo
Journal:  Neurology       Date:  1999-05-12       Impact factor: 9.910

3.  Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine.

Authors:  F Durand; J Bernuau; E Giostra; G Mentha; D Shouval; C Degott; J P Benhamou; D Valla
Journal:  Gut       Date:  2001-06       Impact factor: 23.059

4.  Results of a prospective study of acute liver failure at 17 tertiary care centers in the United States.

Authors:  George Ostapowicz; Robert J Fontana; Frank V Schiødt; Anne Larson; Timothy J Davern; Steven H B Han; Timothy M McCashland; A Obaid Shakil; J Eileen Hay; Linda Hynan; Jeffrey S Crippin; Andres T Blei; Grace Samuel; Joan Reisch; William M Lee
Journal:  Ann Intern Med       Date:  2002-12-17       Impact factor: 25.391

5.  Two families with Wilson disease in which siblings showed different phenotypes.

Authors:  Yukiko Takeshita; Norikazu Shimizu; Yukitoshi Yamaguchi; Hiroki Nakazono; Miyuki Saitou; Yoshinao Fujikawa; Tsugutoshi Aoki
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172

Review 6.  Wilson's disease with superimposed autoimmune features: report of two cases and review.

Authors:  P Milkiewicz; S Saksena; S G Hubscher; E Elias
Journal:  J Gastroenterol Hepatol       Date:  2000-05       Impact factor: 4.029

7.  Severe hepatic Wilson's disease in preschool-aged children.

Authors:  D C Wilson; M J Phillips; D W Cox; E A Roberts
Journal:  J Pediatr       Date:  2000-11       Impact factor: 4.406

8.  Abdominal malignancies in patients with Wilson's disease.

Authors:  J M Walshe; E Waldenström; V Sams; H Nordlinder; K Westermark
Journal:  QJM       Date:  2003-09

9.  Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson's disease.

Authors:  Joanna Seniów; Thomas Bak; Jolanta Gajda; Renata Poniatowska; Anna Czlonkowska
Journal:  Mov Disord       Date:  2002-09       Impact factor: 10.338

Review 10.  Diagnosis and phenotypic classification of Wilson disease.

Authors:  Peter Ferenci; Karel Caca; Georgios Loudianos; Georgina Mieli-Vergani; Stuart Tanner; Irmin Sternlieb; Michael Schilsky; Diane Cox; Frieder Berr
Journal:  Liver Int       Date:  2003-06       Impact factor: 5.828

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  11 in total

1.  Presentations of Wilson Disease.

Authors:  Michael Schilsky
Journal:  Gastroenterol Hepatol (N Y)       Date:  2020-11

2.  Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

Authors:  Hilary Vallance; Graham Sinclair; Bojana Rakic; Sylvia Stockler-Ipsiroglu
Journal:  Paediatr Child Health       Date:  2020-12-19       Impact factor: 2.253

3.  Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Authors:  Nguyen Thi Mai Huong; Nguyen Pham Anh Hoa; Ngo Diem Ngoc; Nguyen Thi Phuong Mai; Pham Hai Yen; Hoàng Thị Vân Anh; Giang Hoa; Tran Minh Dien
Journal:  Mol Genet Metab Rep       Date:  2022-03-15

Review 4.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

5.  Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades.

Authors:  Samuel Shribman; Gwilym Webb; Rhiannon Taylor; Thomas T Warner; Adam Duckworth; Alexander Gimson; Achuth Shenoy; William Griffiths
Journal:  JHEP Rep       Date:  2020-03-09

6.  Wilson's Disease: An Analysis of Health Care Use and Cost Burden of Commercially Insured Adults in the United States.

Authors:  Vinod K Rustgi; Kapil Gupta; Christopher Tait; Abhishek Bhurwal; Savan Kabaria; Carolyn Catalano; You Li; Carlos D Minacapelli
Journal:  Hepatol Commun       Date:  2021-09-02

7.  Evaluation of the Safety and Toxicity of the Original Copper Nanocomposite Based on Poly-N-vinylimidazole.

Authors:  Irina A Shurygina; Galina F Prozorova; Irina S Trukhan; Svetlana A Korzhova; Nataliya N Dremina; Artem I Emel'yanov; Olesya V Say; Nadezhda P Kuznetsova; Alexander S Pozdnyakov; Michael G Shurygin
Journal:  Nanomaterials (Basel)       Date:  2021-12-22       Impact factor: 5.076

8.  Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.

Authors:  Xinshuo Lu; Simin Li; Wen Zhang; Yunting Lin; Zhikun Lu; Yanna Cai; Xueying Su; Yongxian Shao; Zongcai Liu; Huiying Sheng; Yonglan Huang; Li Liu; Chunhua Zeng
Journal:  BMC Gastroenterol       Date:  2022-03-16       Impact factor: 3.067

Review 9.  The Role of Zinc in the Treatment of Wilson's Disease.

Authors:  Abolfazl Avan; Anna Członkowska; Susan Gaskin; Alberto Granzotto; Stefano L Sensi; Tjaard U Hoogenraad
Journal:  Int J Mol Sci       Date:  2022-08-18       Impact factor: 6.208

10.  Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study.

Authors:  Samuel Shribman; Martina Bocchetta; Carole H Sudre; Julio Acosta-Cabronero; Maggie Burrows; Paul Cook; David L Thomas; Godfrey T Gillett; Emmanuel A Tsochatzis; Oliver Bandmann; Jonathan D Rohrer; Thomas T Warner
Journal:  Brain       Date:  2022-03-29       Impact factor: 13.501

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