(1962) Wilson's disease: the presenting symptoms. Arch. Dis. Child. 37: pp. 253-256Walshe, J. M. (1962). Wilson's disease: the presenting symptoms. Archives of Disease in Childhood, 37, 253-255.Walshe,JM.Wilson’s disease,the presenting symptoms.Archives of Disease in Childhood. ...
[20] Schiefermeier M, Kollegger H, Madl C, et al. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson′s disease. Brain, 2000,123 Pt 3:585-590. [21] Litwin...
A boy in his midteens was diagnosed with Wilson disease at the age of 8 years based on Kayser-Fleischer rings, hypocupremia, hypoceruloplasminemia, and increased 24-hour urinary copper levels. His initial symptoms were excessive drooling, dysarthria, change in handwriting, and difficulty walking...
The initial manifestations of the illness (Table 22.1) are neurologic in about 40% of patients (usually after the age of 12 years) (Brewer, 2000;Lorincz, 2010;Lin et al., 2014;Czlonkowska et al., 2017;Lorincz, 2018). The remainder present with symptoms of liver disease (about 40%) ...
Late onset Wilson's disease: Therapeutic implications The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric d... A Członkowska,M Rodo,G Gromadzka - 《Movement Disorders》 被引量: 195发表...
000 individuals.2The mean age of onset for neurologic manifestations of Wilson disease is age 15 to 21, which is later than onset of hepatic symptoms. This can be variable, however, with onset ranging from the first to seventh decades of life.3,4Neurologic symptoms are the presenting ...
(as in the liver, brain, or cornea) due to abnormal copper metabolism associated with ceruloplasmin deficiency, that is inherited as an autosomal recessive gene, and that is marked especially by liver dysfunction and disease and neurologic or psychiatric symptoms (as tremors, slowness of speech, ...
Seventy per cent were diagnosed within six months of the onset of symptoms, but diagnosis was delayed for up to nine years. Age range at diagnosis was wide (7-58 years) and five patients were over 40. In patients presenting with non-fulminant disease, 18% had neither Kayser-Fleischer ...
The intention of this analysis was to identify patients with treated Wilson disease (WD) and residual neurological symptoms in order to determine whether or not they were undergoing any treatment in addition to the common decoppering medication. Moreover, the effects of any symptomatic medication we...
The broad spectrum of clinical manifestations, including hepatic and neuropsychiatric symptoms, can present over a large age range, contributing to difficulty in recognition of this disease. The diagnosis has traditionally rested on measurements of ceruloplasmin and copper in urine and liver, but it ...