Results 71 to 80 of about 2,216 (191)

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

Spasmodic Muscle Cramps and Wilson Disease

Pediatric Neurology Briefs, 2013
Investigators at Ann & Robert H. Lurie Children's Hospital of Chicago report a case of Wilson disease (WD) in a 10-year-old-boy presenting with 3 months of increasingly severe spasmodic muscle cramps and weakness in lower extremities, upper extremities ...
J Gordon Millichap
doaj   +1 more source

Temporal Muscle Thickness Correlates with Functional Decline in Huntington's Disease

Movement Disorders, Volume 40, Issue 12, Page 2845-2847, December 2025.
Greta Hemicker, Clancy Cerejo, Marina Peball, Katarína Schwarzová, Federico Carbone, Bernadette Wimmer, Florian Krismer, Philipp Mahlknecht, Atbin Djamshidian, Astrid E. Grams, Samuel Labrecque, Klaus Seppi, Beatrice Heim   +12 more
wiley   +1 more source

Brain susceptibility changes in neurologically asymptomatic pediatric patients with Wilson's disease: evaluation with quantitative susceptibility mapping

, 2018
Background: Wilson's disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration.
Selim Doganay, Duran Arslan, Sibel Saracoglu, Gonca Koc, Hakan Gumus, Kazim Gumus, GÜMÜŞ, Hakan, SARAÇOĞLU, Sibel, GUMUS, Kazim, Ayse Kacar Bayram, BAYRAM, Ayse Kacar, Doganay, Selim, ARSLAN, Duran, Koc, Gonca   +13 more
core   +1 more source

Mismanagement of Wilson′s disease as psychotic disorder

Advanced Biomedical Research, 2012
Wilson′s disease (WD) or hepatolenticular degeneration is an inherited neurodegenerative disorder of copper metabolism (autosomal recessive, chromosome13). Psychiatric disorders in WD include dementia, characterized by mental slowness, poor concentration,
Reza Bidaki, Mina Zarei, S M Mahdy Mirhosseini, Samar Moghadami, Maral Hejrati, Marjan Kohnavard, Behnam Shariati   +6 more
doaj   +1 more source

A Case of Colonic Adenocarcinoma in a Patient with Wilson's Disease

Gut and Liver, 2013
Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism that results in the accumulation of copper in the body and primarily in the liver, brain, and cornea.
doaj   +1 more source

Choreiform Wilson's disease and a distinctive 7-Tesla magnetic resonance imaging finding

Arquivos de Neuro-Psiquiatria
Chorea is a rare manifestation of Wilson's disease (WD), resulting from copper-induced dysfunction of the basal ganglia. We herein report the case of a 22-year-old woman with progressive dysarthria and generalized chorea, later confirmed as WD.
Ana Rosa Santana, Igor Vilela Brum, Izaely Ramos Prates, Júlio Melão Cordeiro, Rubens Gisbert Cury, Leandro Tavares Lucato, Egberto Reis Barbosa, Jacy Bezerra Parmera   +7 more
doaj   +1 more source

[Factors influencing the clinical phenotype of hepatolenticular degeneration]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2023
Xiao QQ, Wang ZX, Fan JG.
europepmc   +1 more source

Cognitive impairment in Wilson's disease

Dementia & Neuropsychologia
Wilson's disease (WD) or hepatolenticular degeneration is a rare, genetic and systemic disease, caused by a deficit in the metabolism of copper, leading to its accumulation in different organs, mainly the liver, followed by the central nervous system ...
Norberto Anizio Ferreira Frota, Paulo Caramelli, Egberto Reis Barbosa   +2 more
doaj   +1 more source

[Pregnancy management in patients with hepatolenticular degeneration]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2022
Xiao QQ, Fan JG.
europepmc   +1 more source