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Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers

Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, diagnosis remains challenging. Affected patients must obtain lifelong medical treatment, as the disease is fatal if untreated. Patients require continuous monitoring, but little...

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Main Authors: Zimny, Sebastian Raphael (Author) , Bourhis, Hélène (Author) , Weber, Sabine (Author) , Reiter, Florian Paul (Author) , Hohenester, Simon (Author) , Kraft, Eduard (Author) , Mohr, Isabelle (Author) , Merle, Uta (Author) , Weiss, Karl Heinz (Author) , Denk, Gerald (Author)
Format: Article (Journal)
Language:English
Published: 24 May 2023
In: Orphanet journal of rare diseases
Year: 2023, Volume: 18, Pages: 1-11
ISSN:1750-1172
DOI:10.1186/s13023-023-02731-4
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-023-02731-4
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Author Notes:Sebastian Zimny, Hélène Bourhis, Sabine Weber, Florian Paul Reiter, Simon Hohenester, Eduard Kraft, Isabelle Mohr, Uta Merle, Karl Heinz Weiss and Gerald Denk
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Summary:Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, diagnosis remains challenging. Affected patients must obtain lifelong medical treatment, as the disease is fatal if untreated. Patients require continuous monitoring, but little is known about the care of these patients in Germany. Therefore, we analyzed the medical care of WD patients at German university centers. We sent a questionnaire containing 20 questions to a total of 108 departments of pediatrics, neurology and gastroenterology in 36 university hospitals. Our questions referred to the characteristics of WD patients at the different sites and internal procedures regarding diagnosis, therapy and follow-up. A descriptive statistical analysis was performed.
Item Description:Gesehen am 04.07.2023
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-023-02731-4

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