A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report

Although WD is treatable, its early detection is challenging. Genetic testing and liver pathology are sometimes necessary for the diagnosis of WD. This case underscores the consideration of WD in the differential diagnosis of patients with liver cirrhosis. Normal ceruloplasmin levels do not rule out WD.

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Publication Details

Journal
Medicine
Published
2025-07-04
DOI
https://doi.org/10.1097/md.0000000000043080
Primary Topic
Trace Elements in Health
Type
article
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article

A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report

Zhen Yang, Meihong Han
Medicine
Trace Elements in Health
article

A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report

Zhen Yang, Meihong Han
article en

Abstract

Although WD is treatable, its early detection is challenging. Genetic testing and liver pathology are sometimes necessary for the diagnosis of WD. This case underscores the consideration of WD in the differential diagnosis of patients with liver cirrhosis. Normal ceruloplasmin levels do not rule out WD.

MedicineVol. 104(27)
Shandong Provincial Hospital (CN), Shandong First Medical University (CN)
Good health and well-being
Openalex Percentile: Top 80%
Trace Elements in Health
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A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report — Zhen Yang, Meihong Han · Medicine (2025) | TGRS Research Map | TGRS