Results 21 to 30 of about 213,728 (218)

Wilson disease in a Nigerian child: a case report

open access: yesJournal 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
doaj   +1 more source

ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall

open access: yesBiomedical 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
doaj   +1 more source

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2022
We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene.
Marcus Villander Barros de Oliveira Sá   +5 more
doaj   +1 more source

Investigation of Dynamic Thiol/Disulfide Homeostasis and Nitrosative Stress in Patients with Wilson Disease

open access: yesThe Turkish Journal of Gastroenterology, 2021
Background: Wilson disease (WD) is an autosomal recessive inherited disorder of copper (Cu2+) metabolism, resulting in Cu2+ accumulation and liver and central nervous system toxicity.
Emine Melis Yücel   +7 more
doaj   +1 more source

Simultaneous Presentation of Autoimmune Hepatitis and Wilson's Disease: A Systematic Review Study

open access: yesJournal 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

Electro convulsive therapy in psychiatric manifestations in Wilson′s disease

open access: yesIndian Journal of Psychological Medicine, 2013
Wilson′s disease occurs due to an inborn error of metabolism. Psychiatric symptoms are often the first manifestation of the disease and can obscure the diagnosis. There are five neuropsychiatric symptoms clusters established for Wilson′s disease patients:
Parth Vaishnav, H A Gandhi
doaj   +1 more source

Ophthalmological findings in movement disorders

open access: yesAnnals 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

Copper – a novel stimulator of autophagy

open access: yesCell Stress, 2020
Toxic copper accumulation causes Wilson disease, but trace amounts of copper are required for cellular and organismal survival. In a recent paper Tsang et al.
Hans Zischka, Guido Kroemer
doaj   +1 more source

The pseudosclerotic form (“wing beating tremor”) of Wilson’s disease [PDF]

open access: yesRomanian 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
doaj   +1 more source

Quality of Life in Children with Wilson Disease: A Single Center Study [PDF]

open access: yesPediatric Sciences Journal (Egypt)
Background: Wilson disease (WD) is associated with compromised health-related quality of life (HRQoL) in both adults and children, even in the early stages of the liver disease.
Walaa ElNaggar   +3 more
doaj   +1 more source

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