A case of Hepatolenticular Degeneration [PDF]
, 1959 私は最近，肝脳変性疾患の1例で，特殊型に類似した興味ある症例に遭遇し，其の臨床経過,病理組織，及び若干の組織化学的検索を行つたので其の結果について述べた．The author reported the clinical course, histopathological and histochemical findings of a interesting case of hepatolenticular degeneration which is similar to the so called ...
Hidenori Shimizu, Shimizu, Hidenori
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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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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
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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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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
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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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IgG4-related autoimmune hepatitis: A case report
Journal of International Medical Research, 2023 IgG-4-related autoimmune hepatitis (IgG4-AIH) is a rare disease. We report here a case of IgG4-AIH in an elderly male patient who was admitted to hospital because of unexplained hepatic insufficiency.
Yunpeng Li, Lifeng Wang
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Penicillamine-induced skin striae atrophicae in Wilson's disease: A report of 3 cases [PDF]
Jichu yixue yu linchuangObjective To analyze the clinical characteristics of 3 patients with Wilson's disease who suffered from skin striae atrophicae after treatment with penicillamine, and to conduct literature review to extensively profile adverse events of penicillamine ...
YUAN Sunbixin, ZHANG Zhenjie, QIU Zhengqing
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