Arquivos de Neuro-Psiquiatria, 2011 Acquired hepatocerebral degeneration (AHD) and hepatolenticular degeneration can have similar clinical presentations, but when a chronic liver disease and atypical motor findings coexist, the distinction between AHD and hepatic encephalopathy (HE) can be
Fernando G. Romeiro +6 more
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Clinical and gene variation characteristic of 75 cases of hepatolenticular degeneration in children [PDF]
Jichu yixue yu linchuangObjective 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
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Identification of miRNAs Expression Characteristics and Biomarkers in Serum-Derived Exosomes of Wilson's Disease Patients. [PDF]
Mediators InflammBackground Wilson’s disease (WD), caused by mutations in the ATP7B gene, leads to copper accumulation and multi‐organ damage. Exosomal microRNAs (miRNAs) play a crucial role in cell‐to‐cell communication and the pathogenesis of diseases, yet their study in WD remains unreported.
Chen H +5 more
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Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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Hepatolenticular degeneration: report of three cases
Iatreia, 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
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Unilateral K-F ring in Wilson’s disease
GMS Ophthalmology Cases, 2023 Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease.
Hegde, Shruti P. +1 more
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Quantitative Cytochemical Effects Of 3 Metal-Ions On A Lysosomal Hydrolase Of A Hydroid [PDF]
, 1976 The quantitative effects of Cu8+, Cd2+ and Hg2+ on the cytochemical staining reaction for lysosomal N-acetyl-/?-D-glucosaminidase have been determined and related to the inhibitory effects of the metals on colonial growth rate in the experimentally ...
Moore, MN, Stebbing, ARD
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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
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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
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Regulatory approval of pharmaceuticals without a randomised controlled study: analysis of EMA and FDA approvals 1999-2014 [PDF]
, 2016 INTRODUCTION: The efficacy of pharmaceuticals is most often demonstrated by randomised controlled trials (RCTs); however, in some cases, regulatory applications lack RCT evidence.
Baio, G +4 more
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