Results 41 to 50 of about 288,978 (228)
Acta gastro-enterologica Belgica, 2021 Background and study aims To investigate the safety and efficacy of splenectomy for hepatolenticular degeneration (HLD) patients with PLT less than 20 × 109/L.
S. Wang +5 more
semanticscholar +1 more source
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain
Minji Im +7 more
doaj +1 more source
SCREENING AND MANAGEMENT OF PSYCHIATRIC DISORDERS IN PATIENTS WITH WILSON’S DISEASE [PDF]
, 2023 Hepatomegaly is an autosomal recessive condition with an estimated 1:30000 cases worldwide. Because the symptoms and indicators of hepatomegaly mental disease are poorly understood, the ailment is frequently misdiagnosed or underdiagnosed, which causes ...
Fang, Haiyan +3 more
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A rare case of hepatolenticular degeneration with double panda sign on imaging
International Journal of Advances in Medicine, 2022 Wilson's disease is an inborn error of copper metabolism that is characterized by deficiency of ceruloplasmin, the serum transport protein for copper.
F. Dadu +3 more
semanticscholar +1 more source
Copper and ceruloplasmin contents in the blood serum of peripheral and pre-hepatic veins
Arquivos de Neuro-Psiquiatria, 1976 Copper and ceruloplasmin contents were determined in samples of peripheral and pre-hepatic venous blood of 11 patients with Manson's schistosomiasis and one patient with hepatolenticular degeneration, all of çhich submitted either to porto-caval or ...
H. M. Canelas +4 more
doaj +1 more source
Class Iii Malocclusionin Wilson's Disease:A Case Report
International Dental JournalIntroduction: Hepatolenticular degeneration is a rare genetic disorder characterized by abnormal copper metabolism. This disease not only causes damage to the liver and nervous system, but also affects the development of teeth and maxillofacial.
Zhongxing Wu
doaj +1 more source
Difficulties in managing patients with hepatolenticular degeneration
Анналы клинической и экспериментальной неврологии, 2018 In this paper, we present some typical problems of managing patients with hepatolenticular degeneration (HLD), a severe hereditary disorder of cupper metabolism requiring permanent cupper-eliminating therapy.
Tatyana N. Proskokova +3 more
doaj +1 more source
Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia [PDF]
Vojnosanitetski Pregled, 2013 Background/Aim. Wilson’s disease (WD) is an autosomal-recessive disorder which is characterized with a marked clinical heterogeneity. The gene responsible for WD is located in 13q14.3 chromosome, contains 21 exons and codes for copper specific ...
Tomić Aleksandra +7 more
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Neurologic Wilson's disease [PDF]
, 2010 Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease.
Lorincz, Matthew T.
core +1 more source
Clinical Case of Wilson — Konovalov Disease (Hepatolenticular Degeneration)
Zdorovʹe Rebenka, 2014 This article provides information about etiology, pathogenesis and clinical manifestations of Wilson — Konovalov disease, as well as own clinical observation of complicated case of Wilson — Konovalov disease (hepatolenticular degeneration) in 10-year ...
O.O. Tsytsiura +5 more
doaj +1 more source