[HTML][HTML] Challenges in the diagnosis of Wilson disease

A Poujois, F Woimant - Annals of translational medicine, 2019 - ncbi.nlm.nih.gov
The understanding and management of Wilson disease (WD) have dramatically improved
since the first description of the disease by K. Wilson more than a century ago. However, the …

Modifying factors and phenotypic diversity in Wilson's disease

S Lutsenko - Annals of the New York Academy of Sciences, 2014 - Wiley Online Library
Wilson's disease (WD) is a human disorder of copper homeostasis caused by mutations in
the copper‐transporting ATPase ATP7B. WD is characterized by copper accumulation …

Time course of pulmonary inflammation and trace element biodistribution during and after sub-acute inhalation exposure to copper oxide nanoparticles in a murine …

S Areecheewakul, A Adamcakova-Dodd… - Particle and fibre …, 2022 - Springer
Background It has been shown that copper oxide nanoparticles (CuO NPs) induce
pulmonary toxicity after acute or sub-acute inhalation exposures. However, little is known …

Novel and rapid deep eutectic solvent (DES) homogeneous liquid–liquid microextraction (HLLME) with flame atomic absorption spectrometry (FAAS) detection for the …

S Seidi, L Alavi - Analytical Letters, 2019 - Taylor & Francis
Novel and fast deep eutectic solvent (DES)-based homogeneous liquid–liquid
microextraction (HLLME) was applied for the extraction of copper from vegetable samples …

The chemical and laboratory investigation of hemolysis

AJ Siddon, CA Tormey - Advances in clinical chemistry, 2019 - Elsevier
The abnormal breakdown of circulating red blood cells (RBCs), also known as hemolysis, is
a significant clinical issue that can present as a primary disorder or arise secondary to …

[HTML][HTML] Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease

W Choi, S Cha, K Kim - Cells, 2024 - mdpi.com
The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-
associated protein (Cas) system continues to evolve, thereby enabling more precise …

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease—Case Report and Literature Review

IM Ungureanu, MI Iesanu, C Boboc, V Cosoreanu… - Medicina, 2023 - mdpi.com
Wilson's disease (WD) is an autosomal recessive disorder, in which the metabolism of
copper is affected by metal accumulation in several organs that causes gradual organ …

Copper and anesthesia: clinical relevance and management of copper related disorders

A Langley, CT Dameron - Anesthesiology Research and …, 2013 - Wiley Online Library
Recent research has implicated abnormal copper homeostasis in the underlying
pathophysiology of several clinically important disorders, some of which may be …

Acute hemolytic anemia as an initial presentation of Wilson disease in children

MS El Raziky, A Ali, MM Hamdy - Journal of pediatric …, 2014 - journals.lww.com
Background: Wilson disease (WD) is an inherited disorder of copper metabolism. Hemolytic
anemia in WD occurs in up to 17% of patients at some point during their illness. Aim: To …

[PDF][PDF] Клинико-лабораторная и молекулярно-генетическая диагностика болезни Вильсона-Коновалова

ЕА Гернер, ВД Назаров, ТФ Федорова… - Российский …, 2019 - rnj.com
Обсуждение. Клинический симптомокомплекс БВК не является строго очерченным, а
типичное для БВК сочетание поражения печени и нервной системы, колец Кайзера …