ReviewAnnals of translational medicine2019
Classification and differential diagnosis of Wilson's disease.
Review in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Expanding the spectrum of the giant panda sign: a bright-eye variant in Wilson disease.Radiology case reports · 2026Article
- Copper homeostasis and cuproptosis: molecular mechanisms and therapeutic opportunities.Molecular biomedicine · 2026Review
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Mechanistic insights into cargo sorting and export from the Golgi apparatus.Nature reviews. Molecular cell biology · 2025Review
- Pitfalls in the Diagnosis of Wilson Disease.Current neurology and neuroscience reports · 2025Review
- Spectrum and classification ofSaudi medical journal · 2025Article
- Unmasking Wilson Disease: A Rare Paediatric Case of Haemolysis and Hepatic Dysfunction Without Neurological Features.Cureus · 2025Article
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.Molecular genetics and metabolism reports · 2023Article
- Plant-derived chelators and ionophores as potential therapeutics for metabolic diseases.Chemical Society reviews · 2023Review
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Chronic Corticosterone Exposure Suppresses Copper Transport through GR-Mediated Intestinal CTR1 Pathway in Mice.Biology · 2023Article
- Study on Computer Screening and Drug Properties of Herbs Intervening in Copper Death.Computational and mathematical methods in medicine · 2023Article
- High Serum Copper Readings Have Precedent and Do Not Generally Indicate Copper Toxicity.Obesity surgery · 2022Article
- Disrupted topological organization of the motor execution network in Wilson's disease.Frontiers in neurology · 2022Article
- Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features.Annals of translational medicine · 2021Review
- Therapeutic strategies in Wilson disease: pathophysiology and mode of action.Annals of translational medicine · 2021Review
- COMMD1 Exemplifies the Power of Inbred Dogs to Dissect Genetic Causes of Rare Copper-Related Disorders.Animals : an open access journal from MDPI · 2021Review
- A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.Molecular genetics & genomic medicine · 2020Article
- The molecular mechanisms of copper metabolism and its roles in human diseases.Pflugers Archiv : European journal of physiology · 2020Review
- Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?JHEP reports : innovation in hepatology · 2020Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson's disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease. As this overview shows, Wilson's disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS.
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