Results 11 to 20 of about 187,102 (250)
Mayo Clinic Proceedings, 2003 Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults.
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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
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The pseudosclerotic form (“wing beating tremor”) of Wilson’s disease [PDF]
Romanian Journal of Neurology, 2015 Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “
Alina Poalelungi +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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Calculated parameters for the diagnosis of Wilson disease
Singapore Medical Journal, 2023 Introduction: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed.
Nada Syazana Zulkufli +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
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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
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Wilson disease in a Nigerian child: a case report
Journal of Medical Case Reports, 2012 Introduction Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades.
Esezobor Christopher +3 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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