Results 11 to 20 of about 177,432 (192)

Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report [PDF]

open access: yesFrontiers in Medicine
Hepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao, Meixia Wang
exaly   +6 more sources

Hepatolenticular degeneration [PDF]

open access: yesБюллетень сибирской медицины, 2005
Hepatolenticular degeneration or Wilson's disease is the hereditary disease, caused by derangement of copper metabolism and its precipitation in brain and internal.
O. Yu. Koryagina   +2 more
doaj   +3 more sources

Hepatolenticular degeneration: diagnostic difficulties (practical experience) [PDF]

open access: yesActa Biomedica Scientifica, 2016
The article deals with severe hereditary disease - hepatolenticular degeneration (Wilson - Konovalov disease). Hepatolenticular degeneration is a monogenic autosomal recessive genetic disorder.
A. V. Ovchinnikov, V. V. Shprakh
doaj   +3 more sources

Diagnosis and treatment of hepatolenticular degeneration

open access: yesМедицинский совет, 2013
Hepatolenticular degeneration (Wilson-Konovalov disease or hepatolenticular disease) is a rare hereditary disease caused by impaired copper metabolism and copper accumulation in the liver and, subsequently, in other organs.
V. V. Skvortsov, O. A. Leshina
doaj   +2 more sources

Clinical case of fulminant hepatitis in a child with hepatolenticular degeneration

open access: yesZdorovʹe Rebenka, 2021
The article presents a detailed analysis of the diagnostic search for Wilson’s disease in childhood. Polymorphism of clinical symptoms of the disease has led to various descriptions of this pathology and its manifestations. Despite more than a century of
I.M. Nesina   +4 more
doaj   +2 more sources

Hepatolenticular degeneration: report of three cases

open access: yesIatreia, 2017
Hepatolenticular degeneration (Wilson disease) is a rare inherited disease that usually affects the liver, but may present in different forms and have multiple systemic complications. Diagnosis requires a high index of suspicion, mainly in young patients,
Castaño, Orlando   +3 more
doaj   +2 more sources

Clinical and gene variation characteristic of 75 cases of hepatolenticular degeneration in children [PDF]

open access: yesJichu yixue yu linchuang
Objective To investigate the clinical characteristics of the hepatolenticular degeneration in children, and to clarify the significance of gene diagnosis in children with hepatolenticular degeneration.
ZHANG Simin, WANG Wei, MA Mingsheng, QIU Zhengqing
doaj   +2 more sources

Clinical observation and risk assessment after splenectomy in hepatolenticular degeneration patients associated with hypersplenism [PDF]

open access: yesFrontiers in Surgery, 2022
BackgroundBoth hepatolenticular degeneration (HLD) and viral hepatitis B (HBV) can cause hypersplenism, but whether splenectomy is needed or can be performed in HLD patients associated with hypersplenism is still controversial.
Wanzong Zhang   +9 more
doaj   +2 more sources

Metabolic balances of sulfur in patients with hepatolenticular degeneration and effect of the use of D-penicillamine

open access: yesArquivos de Neuro-Psiquiatria, 1969
The metabolic balances of sulfur in two cases of hepatolenticular degeneration were studied. A positive balance was found in both cases; in one patient submitted to mixed diet, the average was significantly higher than the normal mean. The administration
Horacio M. Canelas   +2 more
doaj   +2 more sources

Two cases of Wilson–Konovalov disease [PDF]

open access: yesНеврология, 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   +2 more sources

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