نتایج جستجو برای: kayser fleischer

تعداد نتایج: 574  

Journal: :Archives of Disease in Childhood 2005

Journal: :Current Biology 2011

Journal: :Current Biology 2011
Manfred Kayser

restaurants. Japan consumes about 80 per cent of Pacific and Atlantic bluefin tuna. The country has been accused of stifling efforts to enhance protection of the tuna stocks. In negotiations last year, a bid by Monaco, backed by several other European countries, to introduce a ban on commercial fishing of Atlantic bluefin tuna failed because of perceived support from several smaller nations for...

2015
John Junghun Shin Jun-Pyo Lee Jung-Ho Rah

Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal problems in the patients. In this report, we encountered a young patient who had fracture in the forearm bone. Initially, exception to a previous history of fracture from a motorcycle ac...

Journal: :Arhiv za higijenu rada i toksikologiju 2011
Martin B Popević Gordana Kisić Milenko Dukić Petar Bulat

Wilson's disease (WD) is a rare, progressive autosomal recessive disorder characterised by impaired transport and excessive accumulation of copper in the liver, brain, and other tissues. The disease is diagnosed based on clinical manifestations and screening tests results. Work ability assessment of patients with WD is based on the analysis of liver, kidney, neurological, and cognitive impairme...

2014
Relu Cocoş Alina Şendroiu Sorina Schipor Laurenţiu Camil Bohîlţea Ionuţ Şendroiu Florina Raicu

Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic i...

Journal: :Berichte der deutschen chemischen Gesellschaft 1878

2018
Takahiro Amano Tokuhiro Matsubara Tsutomu Nishida Hiromi Shimakoshi Akiyoshi Shimoda Aya Sugimoto Kei Takahashi Kaori Mukai Masashi Yamamoto Shiro Hayashi Sachiko Nakajima Koji Fukui Masami Inada

A 64-year-old woman was referred to our hospital with jaundice of the bulbar conjunctiva and general fatigue. After admission, she developed hepatic encephalopathy and was diagnosed with fulminant hepatitis based on the American Association for the Study of Liver Disease (AASLD) position paper. Afterwards, additional laboratory findings revealed that serum ceruloplasmin levels were reduced, uri...

Journal: :Archives of neurology 2003
Zhi-Ying Wu Min-Ting Lin Shen-Xing Murong Ning Wang

BACKGROUND The potential for therapy for Wilson disease (WD) emphasizes the importance of presymptomatic diagnosis in families with WD (WD families). OBJECTIVES To investigate the feasibility of presymptomatic DNA diagnosis and evaluate the efficacy of zinc sulfate therapy in WD families. METHODS Seventy-eight clinically unaffected siblings were studied from 51 unrelated WD families that we...

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