Results 21 to 30 of about 1,098,240 (291)

Heme metabolism genes Downregulated in COPD Cachexia. [PDF]

open access: yes, 2020
IntroductionCachexia contributes to increased mortality and reduced quality of life in Chronic Obstructive Pulmonary Disease (COPD) and may be associated with underlying gene expression changes.
Agusti, Alvar   +21 more
core   +3 more sources

Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls

open access: yesBMC Gastroenterology, 2008
Background In Wilson disease, copper is not sufficiently excreted into bile due to the absence or malfunction of the Wilson protein copper ATPase in the excretory pathway of hepatocytes. Copper is found in sweat. It is unknown if the Wilson protein plays
Weiss Karl   +4 more
doaj   +1 more source

The pseudosclerotic form (“wing beating tremor”) of Wilson’s disease [PDF]

open access: yesRomanian Journal of Neurology, 2015
Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “
Alina Poalelungi   +3 more
doaj   +1 more source

Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease. [PDF]

open access: yes, 2018
Mathematical models that combine predictive accuracy with explanatory power are central to the progress of systems and synthetic biology, but the heterogeneity and incompleteness of biological data impede our ability to construct such models. Furthermore,
Duygu Dikicioglu   +2 more
core   +3 more sources

Wilson disease in a Nigerian child: a case report

open access: yesJournal of Medical Case Reports, 2012
Introduction Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades.
Esezobor Christopher   +3 more
doaj   +1 more source

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2022
We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene.
Marcus Villander Barros de Oliveira Sá   +5 more
doaj   +1 more source

Rising plasma nociceptin level during development of HCC: A case report [PDF]

open access: yes, 2004
AIM: Although liver cirrhosis is a predisposing factor for hepatocellular carcinoma (HCC), relatively few reports are available on HCC in primary biliary cirrhosis.
Folhoffer, Anikó   +8 more
core   +1 more source

Alterations of lipid metabolism in Wilson disease [PDF]

open access: yes, 2011
Introduction Wilson disease (WD) is an inherited disorder of human copper metabolism, characterised by accumulation of copper predominantly in the liver and brain, leading to severe hepatic and neurological disease.
Jessica Seessle   +7 more
core   +2 more sources

Quality of Life in Children with Wilson Disease: A Single Center Study [PDF]

open access: yesPediatric Sciences Journal
Background: Wilson disease (WD) is associated with compromised health-related quality of life (HRQoL) in both adults and children, even in the early stages of the liver disease.
Walaa ElNaggar   +3 more
doaj   +1 more source

The study of metaphor as part of Critical Discourse Analysis [PDF]

open access: yes, 2012
This article discusses how the study of metaphoric and more generally, figurative language use contributes to critical discourse analysis (CDA). It shows how cognitive linguists’ recognition of metaphor as a fundamental means of concept- and argument ...
Andreas Musolff   +40 more
core   +1 more source

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