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
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Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?Key points
JHEP Reports, 2020 Summary: The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach.
Carmen Espinós, Peter Ferenci
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
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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
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ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
Biomedical Papers, 2020 Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive cholestatic liver disorder caused by genetic deficiency of ATP-binding cassette subfamily B member 4 (ABCB4), a hepatocanalicular floppase ...
Eva Sticova +4 more
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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
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Depressive symptoms in the elderly : an early symptom of dementia? A systematic review [PDF]
, 2020 Background Depression and dementia are common incapacitating diseases in old age. The exact nature of the relationship between these conditions remains unclear, and multiple explanations have been suggested: depressive symptoms may be a risk factor for,
Baeken, Chris +2 more
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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
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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
Increased nociceptin/orphanin FQ plasma levels in hepatocellular carcinoma [PDF]
, 2004 AIM: The heptadecapeptide nociceptin alias orphanin FQ is the endogenous agonist of opioid receptor-like1 receptor. It is involved in modulation of pain and cognition.
Dunkel, Kinga +7 more
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