Results 11 to 20 of about 213,728 (218)
Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants [PDF]
Clinical and Experimental PediatricsBackground Genotype-phenotype correlations in Wilson disease (WD) have so far been inconclusive. Purpose ATP7B variants with loss of function (LOF) may have a different trajectory.
Amresh Kumar Mishra +6 more
doaj +2 more sources
Penicillamine-induced virginal mammary hypertrophy [PDF]
Archives of Aesthetic Plastic Surgery, 2021 Virginal mammary hypertrophy (VMH), also known as juvenile mammary hypertrophy, is characterized by excessive enlargement of the breasts. Especially in adolescent patients, this condition can cause a negative body image to develop and result in ...
Daiwon Jun +5 more
doaj +1 more source
First application of next-generation sequencing in four families with Wilson disease in Morocco
Egyptian Journal of Medical Human Genetics, 2023 Background Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain.
Maryem Sahli +5 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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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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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
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
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
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