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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
exaly +11 more sources
Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy [PDF]
Frontiers in PediatricsWilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated
Yuemiao Wang +4 more
doaj +2 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
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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
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
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
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
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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