ArticleInternational journal of clinical and experimental medicine2015
Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
Article in International journal of clinical and experimental medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- [Establishment of a Noninvasive Diagnostic Model for Wilson Disease Using Metallomics and Machine Learning].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Article
- N,N'-bis(2-mercaptoethyl)isophthalamide (NBMI) as a novel chelator for Wilson's disease.Free radical biology & medicine · 2025Article
- The Tao of Copper Metabolism: From Physiology to Pathology.Current medicinal chemistry · 2024Review
- Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023Review
- Wilson's Disease: An Update on the Diagnostic Workup and Management.Journal of clinical medicine · 2021Review
- Systemic lupus erythematosus, hypoparathyroidism, and hemolytic anemia in a patient with Wilson's disease.Reumatologia · 2019Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.
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26064408PMC4443242W2426448586What OpenQuestion holds
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