Results 1 to 10 of about 5,188,381 (253)

Intractable Rickets as Presenting Feature of Wilson's Disease

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2004
Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilson's disease is a relatively rare cause.
A Bahrami-Ahmadi, J Shakeri, A Haghighi, MB owlia   +3 more
doaj  

Wilson’s Disease. Onset and Complex Diagnosis: Clinical Case

Вопросы современной педиатрии
Background. The low prevalence of Wilson’s disease, diversity of clinical signs, long latent course, inheritance features make it difficult to diagnose and require multidisciplinary approach from doctors. Clinical case description. This article describes
Elena S. Zastelo, Elvira N. Fedulova, Anastasiya N. Gabrikevich, Tatiana V. Skochilova, Anatoly I. Khavkin   +4 more
doaj   +1 more source

Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the ATP7B Gene: Clinical Cases

Вопросы современной педиатрии
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value
Denis K. Chernevskiy, Alla E. Lavrova, Ekaterina Yu. Konovalova, Elena Yu. Borisova, Natalia A. Doroshchuk, Olga S. Groznova   +5 more
doaj   +1 more source

An unusual presentation of Wilson's disease in childhood: nodular fatty infiltration in liver

The Turkish Journal of Pediatrics, 2008
Wilson's disease is a rare inherited disorder characterized by progressive accumulation of copper in the body tissues. Liver and brain are the most commonly involved organs and the disease is presented predominantly by hepatic manifestations in ...
Zarife Kuloğlu, Aydan Kansu, Fulya Demirçeken, Esra Erden, Suat Fitoz, Nurten Girgin   +5 more
doaj  

Assessment and factors affecting quality of life among patients with Wilson’s disease

Scientific Reports
Wilson’s disease is caused by abnormal copper metabolism resulting in deposition in various organs, including the brain, liver, and cornea, thus disrupting organ function.
Tingting Zhan, Yuxiang Guan, Caijie Sun, Lili Wang, Yan Wang, Xiang Li   +5 more
doaj   +1 more source

Kayser–Fleischer rings: The pathognomonic for Wilson's disease

Clinical Case Reports
Key Clinical Message Wilson's disease is a genetic disorder of copper metabolism that primarily manifests with hepatic and neurological features. Kayser–Fleischer rings (KF rings) are pathognomonic of Wilson's disease and helps in establishing its ...
Priyanka Singh, Bachaspati Subedi, Devraj Mahato, Mitesh Karn   +3 more
doaj   +1 more source

Hepatitis A super infection as a cause of liver failure in a child with Wilson's disease

The Turkish Journal of Pediatrics, 2007
Infection with hepatitis A virus can cause severe or even fatal illness in patients with chronic liver disease. Here we describe a seven-year-old girl who presented as acute liver failure and was diagnosed with Wilson's disease and later with ...
Figen Ozçay, Oğuz Canan, Bariş Akcan, Banu Bilezikçi   +3 more
doaj  

Wilson’s disease

Open Medicine, 2010
Hursitoglu Mehmet, Cikrikcioglu Mehmet, Danalioglu Ahmet, Tukek Tufan   +3 more
doaj   +1 more source

Clinical, cognitive and neuropsychiatric correlates of personality in Wilson's disease. [PDF]

Neurol Sci
De Lucia N, Lisbino R, Matarazzo M, Giglio A, Coppola R, Di Dato F, Iorio R, Riccio G, Maldonato NM, Terracciano A, De Rosa A.   +10 more
europepmc   +1 more source

Acute liver failure as the initial presentation of Wilson's disease in a young adult: a case report. [PDF]

Ann Med Surg (Lond)
Koirala S, Thapa S, Khadka Chhetri S.
europepmc   +1 more source