Genetic movement disorders commonly seen in Asians
The increasing availability of molecular genetic testing has changed the landscape of both
genetic research and clinical practice. Not only is the pace of discovery of novel disease …
genetic research and clinical practice. Not only is the pace of discovery of novel disease …
Wilson's Disease
M Wungjiranirun, K Sharzehi - Seminars in Neurology, 2023 - thieme-connect.com
Wilson's disease (WD) can present with liver disease, neurological deficits, and psychiatric
disorders. Results of genetic prevalence studies suggest that WD might be much more …
disorders. Results of genetic prevalence studies suggest that WD might be much more …
Long-term outcome of patients with neurological form of Wilson's disease compliant to the de-coppering treatment
I Stanković, Č Jovanović, J Vitković, M Svetel… - Journal of …, 2023 - Springer
Background A substantial proportion of Wilson's disease (WD) patients exhibit residual
neurological symptoms. Data on the prognostic value of initial clinical features and treatment …
neurological symptoms. Data on the prognostic value of initial clinical features and treatment …
[HTML][HTML] Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism
JD Ortigoza-Escobar - Tremor and Other Hyperkinetic Movements, 2023 - ncbi.nlm.nih.gov
Background: Movement disorders, particularly chorea, are uncommon in inborn errors of
metabolism, but their identification is essential for improved clinical outcomes. In this context …
metabolism, but their identification is essential for improved clinical outcomes. In this context …
“Because it is a rare disease… it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of …
KM Bailey, N Sahota, U To, P Hedera - Orphanet Journal of Rare …, 2023 - Springer
Background Wilson disease (WD) is a genetic disorder of copper metabolism that leads to
copper accumulation in various organs, primarily the liver and brain, resulting in …
copper accumulation in various organs, primarily the liver and brain, resulting in …
[PDF][PDF] Treatment of Wilson Disease in Japan: An Insurance Claims Database Study
T Daniel-Robin - J Gastro Hepato, 2023 - jajgastrohepto.org
1. Background & Aims: Wilson disease (WD) is a rare hereditary disease of copper
metabolism. For such rare diseases, analysis of health insurance claims databases allows …
metabolism. For such rare diseases, analysis of health insurance claims databases allows …
[PDF][PDF] Wilson's Disease: A Prevalence Study in a Portuguese Population
B Sousa, P Magalhães, A Pinto, E Trindade, E Silva… - Cureus, 2023 - cureus.com
Wilson’s Disease: A Prevalence Study in a Portuguese Population Page 1 Review began 07/27/2023
Review ended 08/12/2023 Published 08/18/2023 © Copyright 2023 Sousa et al. This is an …
Review ended 08/12/2023 Published 08/18/2023 © Copyright 2023 Sousa et al. This is an …
[PDF][PDF] Corrected: Wilson's Disease: A Prevalence Study in a Portuguese Population
B Sousa, P Magalhães, A Pinto, E Trindade, JP Ramos… - 2023 - assets.cureus.com
Corrected: Wilson’s Disease: A Prevalence Study in a Portuguese Population This article has
been corrected. Page 1 Review began 07/27/2023 Review ended 08/12/2023 Published …
been corrected. Page 1 Review began 07/27/2023 Review ended 08/12/2023 Published …
[PDF][PDF] Headache as the sole manifestation of Wilson's disease
N Verma, K Pathania, M Sharma, N Katoch, M Yadav - 2023 - mansapublishers.com
Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the
copper-transporting gene ATP7B. In the first decade of life, hepatic involvement …
copper-transporting gene ATP7B. In the first decade of life, hepatic involvement …
Headache as the sole manifestation of Wilson's disease
K Pathania - Indian Journal of Case Reports, 2023 - mansapublishers.com
Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the
copper-transporting gene ATP7B. In the first decade of life, hepatic involvement …
copper-transporting gene ATP7B. In the first decade of life, hepatic involvement …