نتایج جستجو برای: fleischer

تعداد نتایج: 413  

2009
R. Müller M. Bachmann C. Makasy A. de Miguel A. Müller A. Neumann G. Palubinskas R. Richter M. Schneider T. Storch T. Walzel H. Kaufmann L. Guanter K. Segl

The basic components of the future German satellite mission EnMAP (Environmental Mapping and Analysis Program) are the project management led by the Space Agency of the German Aerospace Centre (DLR) located in Bonn-Oberkassel, the space segment consisting of the satellite bus and the hyperspectral instrument established by Kayser Threde in Munich and OHB-Systems in Bremen, the science advisory ...

Journal: :Journal of medical genetics 1995
R H Houwen J Juyn T U Hoogenraad J K Ploos van Amstel R Berger

Wilson disease is an autosomal recessive copper storage disease resulting from an inability of the liver to excrete copper. Patients can present at a young age, generally with symptoms of liver copper intoxication, or later on, generally with neurological symptoms. The gene for Wilson disease has recently been cloned. Five mutations have been described so far, but only one is found frequently, ...

Journal: :Jetp Letters 2022

A specific representation of the known one-loop EW correction to relation between pole and running $$\overline {{\text{MS}}} $$ -scheme masses top-quark through particle Standard Model is given within Fleischer–Jegerlehner tadpole scheme, where vacuum expectation value Higgs field renormalized. The importance taking into account both QCD effects in this considered case emphasized. It noted that...

HESHMAT MOAYERI, LALEH RAZAVI, MANSOUR NATEGHI, SHAHLA BAHREMAND, YAHYA AGHIGHI, ZOHREH OLOOMI YAZDI,

Wilson's disease is a rare but treatable condition with variable clinical presentations. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the clinical and laboratory findings in children with Wilson's disease (WD). Twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed WD were evaluated between 1994 and 2003 at Imam Khomeini Hos...

Journal: :Polskie Archiwum Medycyny Wewnetrznej 2007
Robert Krysiak Bogusław Okopień

Hepatolenticular degeneration (Wilson's disease) is a rare condition characterised by a defect in biliary excretion of copper resulting in excessive copper accumulation and toxicity. To the most frequent symptoms of this disorder belong liver, neurological or psychiatric disturbances, although other less common clinical features may sometimes be present. Since the clinical presentation of the d...

2016
Rajesh Verma Vikram V. Holla Suchit Pandey Imran Rizvi

Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortica...

2011
Tawhida Y Abdel Ghaffar Solaf M Elsayed Suzan Elnaghy Ahmed Shadeed Ezzat S Elsobky Hartmut Schmidt

BACKGROUND In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options and outcome. METHODS The study included 77 patients from 50 unrelated families (62 w...

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