Clinical profile of adult and pediatric patients with hepatic Wilson's disease

S Kumar, M Irtaza, BR Patra, PK Rao, A Gopan… - Indian Journal of …, 2024 - Springer
Background The clinical profile varies in patients with Wilson's disease (WD). There is
paucity of data regarding adult and pediatric patients with hepatic WD. Methods As many as …

[HTML][HTML] Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants

A Elfatih, C Saad… - European Journal of …, 2024 - nature.com
Arabic populations are underrepresented in large genome projects; therefore, the frequency
of clinically actionable variants among Arabs is largely unknown. Here, we investigated …

Treatment Patterns in a Real-World Cohort of Patients With Wilson Disease in the United States

V Medici, N Kebede, J Stephens… - Frontiers in …, 2024 - frontiersin.org
Background: Wilson disease (WD) is a rare and potentially fatal genetic disorder caused by
accumulation of toxic levels of copper. Current treatments include chelating agents and/or …

[HTML][HTML] The Role of Seasonal Influenza in Compounding the Outbreak of Infectious Diseases: A Critical Review

SA Hudu, AO Jimoh, A Alqtaitat… - Biomedical and …, 2024 - biomedpharmajournal.org
Infectious diseases continue to pose a persistent threat to public health globally. Amidst the
array of factors contributing to the complexity of infectious disease outbreaks, the role of …

A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis

M Minemura, R Fukuda, K Tajiri, N Muraishi… - Internal …, 2024 - jstage.jst.go.jp
A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction.
Despite the absence of symptoms or obesity, the liver biopsy results were consistent with …

[HTML][HTML] Clinical signs and symptoms of Wilson disease in a real-world cohort of patients in the United States: a medical chart review study

V Medici, N Kebede, J Stephens… - Frontiers in …, 2024 - frontiersin.org
Introduction There are limited data from the United States regarding the real-world signs and
symptoms of Wilson disease (WD). This retrospective, observational medical chart review …

Late-onset Wilson Disease in a Patient Followed-up for Nonalcoholic Fatty Liver Disease

T Asano, S Yoshikawa, K Matsumoto, H Kashima… - Internal …, 2024 - jstage.jst.go.jp
A 73-year-old woman was referred to our hospital for persistent liver dysfunction. When the
patient was 45 years old, her youngest sister had been diagnosed with Wilson disease …

Wilson's disease

M Svetel, N Kresojević, A Tomić… - Srpski arhiv za …, 2024 - doiserbia.nb.rs
Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism
caused by mutations in the ATP7B gene, which is located on chromosome 13q14. 3. The …