Literature DB >> 31179298

Clinical features of Wilson disease.

Wolfgang Stremmel1, Uta Merle2, Ralf Weiskirchen3.   

Abstract

Wilson disease (WD) presents often as a chameleon with a plethora of mild and discrete symptoms. As disease of young aged people, the clinical diagnosis is extremely difficult and misdiagnoses are frequent. Tremor, dysarthria and hepatomegaly sometimes suggest alcoholic liver disease which is a disaster for the patients. Due to the only moderate abnormality of liver function tests the disease is underestimated in its severity with a fatal prognosis when not adequately treated. Therefore, it is the challenge to consider WD as diagnosis, particularly in young patients with unclear liver disease, neuropsychiatric disorders or hemolysis.

Entities:  

Keywords:  Kayser-Fleischer rings; clinical manifestation; copper overload; diagnosis

Year:  2019        PMID: 31179298      PMCID: PMC6531660          DOI: 10.21037/atm.2019.01.20

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


  6 in total

1.  EASL Clinical Practice Guidelines: Wilson's disease.

Authors: 
Journal:  J Hepatol       Date:  2012-03       Impact factor: 25.083

Review 2.  Psychiatric aspects of Wilson disease: a review.

Authors:  Paula C Zimbrean; Michael L Schilsky
Journal:  Gen Hosp Psychiatry       Date:  2013-10-09       Impact factor: 3.238

3.  Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis.

Authors:  S Strand; W J Hofmann; A Grambihler; H Hug; M Volkmann; G Otto; H Wesch; S M Mariani; V Hack; W Stremmel; P H Krammer; P R Galle
Journal:  Nat Med       Date:  1998-05       Impact factor: 53.440

Review 4.  Wilson disease.

Authors:  Anna Członkowska; Tomasz Litwin; Petr Dusek; Peter Ferenci; Svetlana Lutsenko; Valentina Medici; Janusz K Rybakowski; Karl Heinz Weiss; Michael L Schilsky
Journal:  Nat Rev Dis Primers       Date:  2018-09-06       Impact factor: 52.329

Review 5.  Cognitive and psychiatric symptoms in Wilson disease.

Authors:  Paula Zimbrean; Joanna Seniów
Journal:  Handb Clin Neurol       Date:  2017

6.  Diagnostic criteria for acute liver failure due to Wilson disease.

Authors:  Christoph Eisenbach; Olivia Sieg; Wolfgang Stremmel; Jens Encke; Uta Merle
Journal:  World J Gastroenterol       Date:  2007-03-21       Impact factor: 5.742

  6 in total
  9 in total

Review 1.  Quantitative imaging approaches to understanding biological processing of metal ions.

Authors:  David Z Zee; Keith W MacRenaris; Thomas V O'Halloran
Journal:  Curr Opin Chem Biol       Date:  2022-05-11       Impact factor: 8.972

2.  Quality of Life of Patients with Wilson's Disease and Their Families.

Authors:  Ojas Unavane; Kritika Tiwari; Aabha Nagral; Ritika Aggarwal; Nikita Garg; Nishtha Nagral; Bela Verma; Ajay Jhaveri; Maninder S Setia
Journal:  J Clin Exp Hepatol       Date:  2021-06-09

Review 3.  Mechanism of idiosyncratic drug induced liver injury (DILI): unresolved basic issues.

Authors:  Rolf Teschke; Jack Uetrecht
Journal:  Ann Transl Med       Date:  2021-04

Review 4.  Therapeutic strategies in Wilson disease: pathophysiology and mode of action.

Authors:  Wolfgang Stremmel; Ralf Weiskirchen
Journal:  Ann Transl Med       Date:  2021-04

5.  Accurate Measurement of Copper Overload in an Experimental Model of Wilson Disease by Laser Ablation Inductively Coupled Plasma Mass Spectrometry.

Authors:  Philipp Kim; Chengcheng Christine Zhang; Sven Thoröe-Boveleth; Sabine Weiskirchen; Nadine Therese Gaisa; Eva Miriam Buhl; Wolfgang Stremmel; Uta Merle; Ralf Weiskirchen
Journal:  Biomedicines       Date:  2020-09-16

Review 6.  COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders.

Authors:  Ronald Jan Corbee; Louis C Penning
Journal:  Animals (Basel)       Date:  2021-02-25       Impact factor: 2.752

7.  Quality of Life in Wilson's Disease: A Systematic Literature Review.

Authors:  Chakrapani Balijepalli; Kevin Yan; Lakshmi Gullapalli; Stephane Barakat; Helene Chevrou-Severac; Eric Druyts
Journal:  J Health Econ Outcomes Res       Date:  2021-12-08

Review 8.  Hypoparathyroidism in Pregnancy and Lactation: Current Approach to Diagnosis and Management.

Authors:  Dalal S Ali; Karel Dandurand; Aliya A Khan
Journal:  J Clin Med       Date:  2021-03-29       Impact factor: 4.241

9.  Comparison of the Pharmacokinetic Profiles of Trientine Tetrahydrochloride and Trientine Dihydrochloride in Healthy Subjects.

Authors:  Karl Heinz Weiss; Catherine Thompson; Peter Dogterom; Yi-Jin Chiou; Tim Morley; Brinley Jackson; Naseem Amin; Camille Omar Farouk Kamlin
Journal:  Eur J Drug Metab Pharmacokinet       Date:  2021-08-06       Impact factor: 2.441

  9 in total

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