Results 1 to 10 of about 187,102 (250)
Nature Reviews Disease Primers, 2018 Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs.
Anna Członkowska +2 more
exaly +7 more sources
Gomal Journal of Medical Sciences, 2003 Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism characterized by excessive accumulations of copper in the liver, central nervous system, kidneys, eyes and other organs. WD is characterized by reduced in corporation of copper into ceruloplasmin and a decreased biliary copper excretion.
Imtiaz Ahmad +2 more
doaj +3 more sources
Zinc gluconate for Wilson disease [PDF]
Clinical Parkinsonism & Related DisordersDue to financial constraints, a patient with Wilson disease required transitioning his maintenance pharmacotherapy from zinc acetate to zinc gluconate.
Mark S. LeDoux
doaj +2 more sources
Prion protein promotes copper toxicity in Wilson disease [PDF]
Nature CommunicationsCopper (Cu) is a vitally important micronutrient, whose balance between essential and toxic levels requires a tightly regulated network of proteins. Dysfunction in key components of this network leads to the disruption of Cu homeostasis, resulting in ...
Raffaella Petruzzelli +25 more
doaj +2 more sources
Seminars in Neurology, 2007 In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified.
Aftab, Ala +4 more
+8 more sources
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
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
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
The Lancet, 1956 During the past decade Wilson’s disease has become one of the most intensively studied neurological disorders. The current perfervid interest in this condition almost certainly stems from recent investigations on copper metabolism which have shed light on the pathogenesis of this otherwise esoteric and seemingly unimportant disease.
openaire +6 more sources