Wilson’s disease in pregnancy: case series and review of literature [PDF]
, 2013 Background: Wilson’s disease is a rare, autosomal recessive inherited disorder characterized by impaired liver metabolism of copper leading to decreased biliary excretion and incorporation of ceruloplasmin levels mainly in the liver and brain.
Khawaja, Ali +2 more
core +4 more sources
Hepatic Lenticular Degeneration With Renal Tumors: A Case Series. [PDF]
Clin Case RepABSTRACT This article presents a series of cases involving hepatic lenticular degeneration (Wilson's disease) complicated by renal tumors. It details the clinical manifestations, diagnostic procedures, treatment strategies, pathological features and outcomes of these patients. We found that this type of patient has an early‐onset disease, complex tumor
Xiao H +9 more
europepmc +2 more sources
Social Support, Self-Management Behaviors, and Coping Styles of Patients With Wilson's Disease: A Quantitative Empirical Research. [PDF]
Brain BehavABSTRACT Purpose Based on Roy's Adaptation Model, this study explores the relationship between social support, coping styles, and self‐management behaviors in patients with Wilson's disease (WD), as well as the underlying mechanisms. Methods A cross‐sectional survey was conducted among 230 WD patients from a tertiary hospital using the Social Support ...
Zhan T +8 more
europepmc +2 more sources
Doença de Wilson no sul do Brasil: correlação genotípica-fenotípica\ud e a descrição de duas novas mutações no gene ATP7B [PDF]
, 2013 OBJECTIVE:\ud \ud Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B.
Araújo, Thiago Ferreira de +9 more
core +4 more sources
Dysarthria in Wilson's disease: analysis of two cases in different stages [PDF]
, 2010 BACKGROUND: dysarthria in Wilson's disease. PROCEDURES: case study of two patients with disease's diagnosis, both young female adults, with six years of schooling. Perceptual analysis was done by four speech therapists.
Barreto, Simone Dos Santos +3 more
core +1 more source
A Diagnosis Hidden in Plain Sight: A Rare Presentation of Isolated Dysarthria in Wilson's Disease-A Case Report. [PDF]
Clin Case RepABSTRACT A clinical picture of isolated dysarthria is relatively uncommon, and the underlying condition causing it can be easily misdiagnosed. In this case, a 24‐year‐old Indian male presented with complaints of slurring of speech occurring for the past 9 months. The patient also complained of difficulty swallowing food using his tongue. There was also
Reddy K +7 more
europepmc +2 more sources
Catatonia: A rare presentation of Wilson's disease
Industrial Psychiatry Journal, 2021 Wilson's disease (WD) or hepatolenticular degeneration is a rare inherited disorder of copper metabolism affecting both the liver and the central nervous system.
Supriya Davis +4 more
doaj +1 more source
Tratamento Endovascular da Disseção Crónica Isolada da Aorta Abdominal [PDF]
, 2016 Isolated acute abdominal aortic dissection is a relatively rare event. Its natural history is not fully understood and its optimal treatment is not established.
Almeida, R. +3 more
core +1 more source
Two cases of Wilson–Konovalov disease
Неврология, нейропсихиатрия, психосоматика, 2013 Wilson–Konovalov disease (hepatolenticular degeneration) is a monogenic autosomal recessive genetic disorder. For its pathogenesis, there is the underlying genetic disorder of copper metabolism in which copper accumulates in excessive amounts in target ...
Alla Anatolyevna Strutsenko +4 more
doaj +1 more source
Cerebral Pathology in Hepatolenticular Degeneration (Wilson Disease)
Анналы клинической и экспериментальной неврологии, 2020 Introduction. Hepatolenticular degeneration (HLD), or Wilson disease, is one of the severe progressive hereditary disorders of the nervous system. A number of questions regarding its pathogenesis and pathology are the subject of in-depth research. The
Tat'yana S. Gulevskaya +2 more
doaj +1 more source