Results 21 to 30 of about 13,679,770 (330)
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
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Clinical Case of Wilson — Konovalov Disease (Hepatolenticular Degeneration)
Zdorovʹe Rebenka, 2014 This article provides information about etiology, pathogenesis and clinical manifestations of Wilson — Konovalov disease, as well as own clinical observation of complicated case of Wilson — Konovalov disease (hepatolenticular degeneration) in 10-year ...
O.O. Tsytsiura +5 more
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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
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Acute lymphoblastic leukemia in a child with Wilson disease
The Turkish Journal of Pediatrics, 2000 Wilson disease is an autosomal recessively inherited disease of copper metabolism and is characterized by liver and central nervous system dysfunction. The heterozygote carrier state rate is about one in 90 persons and the incidence of the disease
A Yüce +5 more
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Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2009 The aim of review. To present modern methods of diagnostics, treatment and monitoring of patients with Wilson disease (WD). Original positions. Diagnosis of Wilson disease should be excluded at each patient with liver disease of non-specified etiology at
article Editorial
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Penicillamine-Induced Signs of Wilson Disease
Pediatric Neurology Briefs, 1997 A 9-year-old boy with asymptomatic Wilson disease who developed neurologic symptoms after treatment with penicillamine is reported from the Department of Pediatrics, Universita Federico II, Naples, Italy.
J Gordon Millichap
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Epidemiological study on a Wilson disease group of patients
Acta Marisiensis - Seria MedicaWilson disease is a disorder of copper metabolism caused by genetic mutations in the ATP7B gene which lead to the accumulation of copper in the body. This study was conducted using an online questionnaire consisting of 32 questions in a group of patients
Musteață Isabela Raluca +3 more
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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
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Structures of the human Wilson disease copper transporter ATP7B.
Cell Reports, 2023 The P-type ATPase ATP7B exports cytosolic copper and plays an essential role in the regulation of cellular copper homeostasis. Mutants of ATP7B cause Wilson disease (WD), an autosomal recessive disorder of copper metabolism. Here, we present cryoelectron
Guo-Min Yang +11 more
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Monitoring of Copper in Wilson Disease
Diagnostics, 2023 (1) Introduction: Wilson’s disease (WND) is an autosomal recessive disorder of copper (Cu) metabolism. Many tools are available to diagnose and monitor the clinical course of WND.
G. Gromadzka +2 more
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