Results 41 to 50 of about 13,679,770 (330)
Wilson disease – a case report [PDF]
Romanian Journal of Neurology, 2018 Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport.
Simina Cozma +2 more
doaj +1 more source
The Turkish Journal of Gastroenterology, 2021 Background: Wilson disease (WD) is an autosomal recessive inherited disorder of copper (Cu2+) metabolism, resulting in Cu2+ accumulation and liver and central nervous system toxicity.
Emine Melis Yücel +7 more
doaj +1 more source
Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease
Gastroenterology, 2021 Background and Aims: Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson’s Disease (WD) often creating ambiguities in patient identification leading to delayed diagnosis and ineffective management.
Christopher J. Collins +15 more
semanticscholar +1 more source
Dystonic Dysarthria in Wilson Disease: Efficacy of Zolpidem
Frontiers in Neurology, 2017 Wilson disease (WD) is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is
Aurélia Poujois +3 more
doaj +1 more source
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +1 more source
Simultaneous Presentation of Autoimmune Hepatitis and Wilson's Disease: A Systematic Review Study
Journal of Pediatrics Review, 2021 Background: The specialists should identify the features of Wilson disease and autoimmune hepatitis when both affect a patient to adopt appropriate treatment.
Fatemeh Famouri +6 more
doaj +1 more source
BMC 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
Ophthalmological findings in movement disorders
Annals of Movement Disorders, 2021 Ocular manifestations form an important clinical component of several movement disorders. Both hypokinetic and hyperkinetic movement disorders can involve the eye. Ophthalmological manifestations can arise due to dysfunction at the level of retina, optic
Sahil Mehta +3 more
doaj +1 more source
Medical Electron Microscopy, 2002 Wilson disease is an autosomal recessive inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion from hepatocytes. Recently, novel components involved in copper metabolism, including Menkes disease protein (ATP7A), Wilson disease protein (ATP7B), and copper chaperones ...
C A, Davie, A H V, Schapira
openaire +5 more sources
Hepatitis A, a potential life-threatening condition in small children with Wilson disease – a case report [PDF]
Romanian Journal of Infectious Diseases, 2020 Introduction. Hepatitis A is the most common cause of acute hepatitis in children. Wilson disease (WD) is a rare autosomal recessive condition that can result in chronic liver disease. Hepatitis A may be a trigger in the onset of WD.
Cristian Dan Marginean +4 more
doaj +1 more source