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The predictors of fungal infections after liver transplantation and the influence of fungal infections on outcomes
The primary objective of this study was to assess the incidence, timing, risk factors of fungal infections (FIs) within 3 months after liver...
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Kayser–Fleischer ring with keratoconus: a coincidence? A case report
BackgroundIt is rare for hepatolenticular degeneration [Wilson’s disease (WD)] to occur along with keratoconus (KC). In our report, a teenager was...
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Evaluation of liver and spleen stiffness measurement with shear wave elastography in brucellosis
BackgroundHuman brucellosis, which is endemic in the eastern region of Turkey, infects the reticulo-endothelial system. Acute brucellosis may cause...
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Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review
BackgroundSystemic lupus erythematosus (SLE) and Wilson’s disease (WD) are both systemic diseases that can affect multiple organs in the body. The...
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Physicians’ knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China
BackgroundRare disease patients often experience diagnosis delays or misdiagnosis, which may be due to lack of knowledge on rare diseases among...
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Low adipose tissue index as an indicator of hepatic encephalopathy in cirrhotic patients following transjugular intrahepatic portosystemic shunt
PurposeWe aimed to investigate the predictive value of body compositions measured by CT, including skeletal muscle and adipose tissue, for hepatic...
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Use of the bibliometric in rare diseases: taking Wilson disease personally
BackgroundBibliometric have been widely applied to the evaluation of academic productivity. However, those of individuals or institutions on a...
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First application of next-generation sequencing in four families with Wilson disease in Morocco
BackgroundWilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the...
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Deep learning-based arterial subtraction images improve the detection of LR-TR algorithm for viable HCC on extracellular agents-enhanced MRI
PurposeTo determine the role of deep learning-based arterial subtraction images in viability assessment on extracellular agents-enhanced MRI using...
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Molecular genetic screening of full-term small for gestational age
ObjectiveTo examine the clinical application of genomic screening in newborns small for gestational age (SGA), ho** to provide an efficient...
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Association of chronic hepatitis B infection with hepatic steatosis and injury in nonalcoholic fatty liver disease children
BackgroundThe influence of chronic hepatitis B infection (CBI) on hepatic steatosis, necroinflammation, and fibrosis in nonalcoholic fatty liver...
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Association between body mass index and tic disorders in school-age children
ObjectiveTo explore the relationship between body mass index (BMI ) and the severity of tic disorders (TDs) in children 6–14 years old.
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Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson’s disease at diagnosis
ObjectiveTo analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis.
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A case report of classic galactosemia with a GALT gene variant and a literature review
BackgroundGalactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe...
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Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism
BackgroundWilson’s disease (WD) is a hereditary disorder that results in the accumulation of copper. The pathogenic mechanism is not well understood,...
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Clinical application value of expanded carrier screening in the population of childbearing age
ObjectiveThe objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese...
