Results 51 to 60 of about 177,432 (192)

Difficulties in managing patients with hepatolenticular degeneration

Анналы клинической и экспериментальной неврологии, 2018
In this paper, we present some typical problems of managing patients with hepatolenticular degeneration (HLD), a severe hereditary disorder of cupper metabolism requiring permanent cupper-eliminating therapy.
Tatyana N. Proskokova, Nadezhda V. Vyalova, Natal'ya B. Serdyuk, Aleksandr M. Khelimsky   +3 more
doaj   +1 more source

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia [PDF]

Vojnosanitetski Pregled, 2013
Background/Aim. Wilson’s disease (WD) is an autosomal-recessive disorder which is characterized with a marked clinical heterogeneity. The gene responsible for WD is located in 13q14.3 chromosome, contains 21 exons and codes for copper specific ...
Tomić Aleksandra, Dobričić Valerija, Novaković Ivana, Svetel Marina, Pekmezović Tatjana, Kresojević Nikola, Potrebić Aleksandra, Kostić Vladimir S.   +7 more
doaj   +1 more source

Penicillamine-induced skin striae atrophicae in Wilson's disease: A report of 3 cases [PDF]

Jichu yixue yu linchuang
Objective To analyze the clinical characteristics of 3 patients with Wilson's disease who suffered from skin striae atrophicae after treatment with penicillamine, and to conduct literature review to extensively profile adverse events of penicillamine ...
YUAN Sunbixin, ZHANG Zhenjie, QIU Zhengqing
doaj   +1 more source

Wilson’s disease [PDF]

Romanian Journal of Neurology, 2011
A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13.
A. Hancu, C. Mihai, D. Zguma, A. Docu Axelerad, E. Dumitru, M. Kaivanifard   +5 more
doaj   +1 more source

Magnetic resonance imaging pontine signal abnormality in neurological Wilson disease: A case report

Clinical Case Reports, 2023
Key Clinical Message WD is diagnosed with the help of a brain MRI, which frequently reveals hyperintensities in the lentiform nucleus. But occasionally, high signals can be seen in the pons, thalamus, and midbrain.
Bikram Prasad Gajurel, Susmin Karki, Asmita Parajuli, Sunil Babu Khanal   +3 more
doaj   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, Volume 41, Issue 10, Page 2712-2722, October 2026.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Wilson disease is rarely reported among African children. Wilson disease is due to a mutation in ATP7B on an autosomal recessive pattern, which causes defective copper excretion and copper accumulation in tissues such as liver and brain.
Amjed Abdu Ali Mohammed, Anaheed Alzubair Mohammed HabeebAllah, Sudad salahaldeen Hassan Mohammed, Aprar Kamal Mohammed Ali Almamoon, Mehad Mortada BadrAlden Ahmed, Arafa Mubarak Abotalib Aref, Fatima Bashir Omer Bashir, Tarig Mohamed Nourallah Altegani, Ahmed Alshafei Elmahi Ahmed   +8 more
wiley   +1 more source

Wilson disease – a case report [PDF]

Romanian Journal of Neurology, 2018
Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport.
Simina Cozma , Andreea Paraschiv, Vitalie Vacaras   +2 more
doaj   +1 more source

Exploring and Targeting the Connection of Iron and Copper Homeostasis to Neurodegenerative Diseases

MedComm, Volume 7, Issue 6, June 2026.
Iron and copper dyshomeostasis, along with their interactions with key intrinsically disordered proteins (e.g., Aβ, tau, α‐synuclein) have a strong implication in the onset and progression of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), Prion diseases (PrDs), Huntington's disease (HD), Wilson's disease (WD),
Xin Liu, Lin Jia, Kerong Wu, Mo Chen, Jichao Sun, Chuanbin Yang, Chengchao Xu, Jie Sun, Jigang Wang, Lingyun Dai   +9 more
wiley   +1 more source

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1513-1517, June 2026.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E. Gilbert, Jody Corey‐Bloom   +5 more
wiley   +1 more source