Results 41 to 50 of about 2,772 (216)

Hepatolenticular degeneration with depressive episodes of bipolar disorder： a case report

Sichuan jingshen weisheng
This case reported a 17-year-old female patient who presented to the hospital with "poor mood and irritability for more than 5 months". The patient was diagnosed with hepatolenticular degeneration at the age of five.
Xiang Wei, Chen Yan
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

Development and Validation of a Brief Fall Questionnaire (FALL‐HD) for Patients with Huntington's Disease

Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 949-955, April 2026.
ABSTRACT Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Falls represent the leading cause of nursing home placement in HD.
Japleen Kaur, Deng‐Yuan Liou, Krisha Bagga, Nadeen Youhanan, Andrew Hall, Paul E. Gilbert, Daniel J. Goble, Jody Corey‐Bloom   +7 more
wiley   +1 more source

BMQ [PDF]

, 1963
BMQ: Boston Medical Quarterly was published from 1950-1966 by the Boston University School of Medicine and the Massachusetts Memorial ...
Antuna, Juan, Bagnoli, Thomas, Barber, Doris E., Cocchiarella, John P., Duke, Martin, Estes, J. Worth, Friedlander, Walter J., Goldsmith, Harry S., Gooding, Gretchen W., Goofman, Max L., Haseotes, Hytho V., Hass, Gerald, Hastings, A. Baird, Jackson, David R., Johnson, David S., Kechejian, Sarkis J., Kramer, Philip, Litman, George I., Madoff, Irving M., McLellan, Patricia A., O'Hara, Vincent S., Peabody, C. Newton, Pryles, Charles V., Small, Donald M., Tedeschi, Luke G., Walker, Sydney, III   +25 more
core  

Neurologic Wilson's disease [PDF]

, 2010
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease.
Lorincz, Matthew T.
core   +1 more source

Bioinformatics and Immunohistochemistry Reveal the Diagnostic and Mechanistic Role of the Cuproptosis‐Related Genes SMOC2/THY1 in Liver Fibrosis

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT Cuproptosis, a newly identified form of programmed cell death, inhibits liver fibrosis in hepatic stellate cells. However, how cuproptosis influences liver fibrosis in other cells remains to be determined. We aimed to develop a diagnostic model for cuproptosis and to further investigate its role in liver fibrosis.
Ranyan Gao, Hongliang Chen, Jiaxin Wang, Lingyi Xu, Fengchun Li, Xinyu Jiang, Xinyu Geng, Ning Li, Ram Prasad Chaulagain, Babalola Deborah Oluwaseun, Wanwei Li, Shizhu Jin   +11 more
wiley   +1 more source

DNA linkage based diagnosis of Wilson disease in asymptomatic siblings [PDF]

, 2003
Wilson disease (WD) is an autosomal recessive disorder caused by defects in ATP7B gene located in chromosome 13q14, and manifested as hepatolenticular degeneration as a result of accumulation of copper.
Gangopadhyay, Prasanta K, Gupta, Arnab, Mukherjea, M, Mukhopadhyay, A, Neogi, R, Ray, Kunal, Roychoudhury, Susanta, Senapati, A   +7 more
core  

Metabolic balances of sulfur in patients with hepatolenticular degeneration and effect of the use of D-penicillamine

Arquivos de Neuro-Psiquiatria, 1969
The metabolic balances of sulfur in two cases of hepatolenticular degeneration were studied. A positive balance was found in both cases; in one patient submitted to mixed diet, the average was significantly higher than the normal mean. The administration
Horacio M. Canelas, Francisco B. De Jorge, Waldir A. Tognola   +2 more
doaj   +1 more source

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 673-682, March 2026.
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz, Anna‐Gaelle Giguet‐Valard, Sophie Duclos, Cécile Cazeneuve, Chloé Angelini, Aïssatou Signaté, Russell L. Margolis, Cyril Goizet, Rémi Bellance   +8 more
wiley   +1 more source

Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies [PDF]

, 2019
BACKGROUND & AIMS: Wilson disease (WD) is a rare disorder of copper metabolism. The objective of this systematic review is to determine the comparative effectiveness and safety of common treatments of WD.
Aggarwal A, Cacic M, Chen JL, Chen JL, Chen ZR, Czlonkowska A, Hu Z, Jablonska‐Kaszewska I, Lee DY, Li N, Nagy J, Strickland GT, Szleper M, Vieira Barbosa J, Xie XW, Yuzbasiyan‐Gurkan V   +15 more
core   +1 more source