Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease.
Sign Up to like & getrecommendations! Published in 2025 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.70177
Abstract: Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. read more here.
Keywords: brain metal; metal burden; wilson disease;
Clinical features and power spectral entropy of electroencephalography in Wilson's disease with dystonia
Sign Up to like & getrecommendations! Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2791
Abstract: To study the clinical features and power spectral entropy (PSE) of electroencephalography signals in Wilson's disease (WD) patients with dystonia. read more here.
Keywords: power spectral; features power; wilson disease; spectral entropy ... See more keywords
Optical coherence tomography in patients with Wilson's disease.
Sign Up to like & getrecommendations! Published in 2023 at "Brain and behavior"
DOI: 10.1002/brb3.3014
Abstract: BACKGROUND Morphological changes of retina in patients with Wilson's disease (WD) can be found by optical coherence tomography (OCT), and such changes had significant differences between neurological forms (NWD) and hepatic forms (HWD) of WD.… read more here.
Keywords: retina layer; patients wilson; layer; wilson disease ... See more keywords
Pregnancy in Wilson disease
Sign Up to like & getrecommendations! Published in 2018 at "Hepatology"
DOI: 10.1002/hep.29619
Abstract: report on pregnancy in Wilson disease (WD). This is a detailed analysis of a large cohort of pregnant woman with WD and will become a useful reference for this unique challenge of patient care. WD… read more here.
Keywords: pregnancy; copper; disease; wilson disease ... See more keywords
Ninety days transplant free survival with high volume plasma exchange in Wilson disease presenting as acute liver failure
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Apheresis"
DOI: 10.1002/jca.21848
Abstract: To study the efficacy and safety of high volume plasma exchange (HVPE) in Wilson disease presenting as acute liver failure (WD‐ALF). read more here.
Keywords: disease presenting; presenting acute; high volume; plasma exchange ... See more keywords
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.24459
Abstract: OBJECTIVES Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict… read more here.
Keywords: atp7b gene; studies discover; genetic studies; wilson disease ... See more keywords
Strain and strain rate echocardiography variables in adult Wilson's disease patients: A speckle tracking echocardiography study
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.22849
Abstract: Although the hepatic and neurological consequences of Wilson's disease (WD) have been investigated in detail, its cardiac involvement remains little studied. Our aim was to investigate potential cardiac differences in strain (ST) and strain rate… read more here.
Keywords: wilson disease; strain rate; strain strain; echocardiography ... See more keywords
Factors affecting activities of daily living among patients with Wilson disease.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12634
Abstract: Wilson disease (WD) is a congenital copper metabolism disorder with various manifestations and can be treated with oral medication. This study examined the factors related to decline in activities of daily living (ADL) in patients… read more here.
Keywords: adl decline; decline; daily living; activities daily ... See more keywords
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12639
Abstract: BACKGROUND AND AIMS Wilson Disease (WD) is a complex disease in which diagnosis and long-term metabolic copper control remains challenging. The absence of accurate biomarkers requires the combination of different parameters to ensure copper homeostasis.… read more here.
Keywords: copper; exchangeable copper; wilson disease; copper ratio ... See more keywords
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Sign Up to like & getrecommendations! Published in 2024 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1002/jpn3.12343
Abstract: BACKGROUND AND OBJECTIVES Wilson's disease (WD) in children and adolescents is predominantly asymptomatic or oligo-symptomatic. The symptoms are nonspecific and difficult to distinguish from other hepatic or neuropsychiatric disorders. In this study, we present the… read more here.
Keywords: diagnosis; copper; referral center; experience pediatric ... See more keywords
Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1002/jpn3.12446
Abstract: OBJECTIVES Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological,… read more here.
Keywords: genetic profiling; variant atp7b; atp7b; wilson disease ... See more keywords