Wilson's disease: clinical practice guidelines of the Indian national association for study of the liver, the Indian society of pediatric gastroenterology, hepatology and …

A Nagral, MS Sarma, J Matthai, PL Kukkle… - Journal of clinical and …, 2019 - Elsevier
Clinical practice guidelines for Wilson's disease (WD) have been published by the American
Association for the Study of Liver Diseases and European Association for the Study of the …

A review and current perspective on Wilson disease

M Patil, KA Sheth, AC Krishnamurthy… - Journal of clinical and …, 2013 - Elsevier
Wilson disease is a rare, inherited autosomal recessive disease of copper metabolism and
may be more common where consanguinity is prevalent. Much has been known about the …

Cognitive profile in Wilson's disease: a case series of 31 patients

E Wenisch, A De Tassigny, JM Trocello, J Beretti… - Revue …, 2013 - Elsevier
Background Wilson's disease (WD) is a rare autosomal recessive disorder of copper
metabolism. If untreated, WD, which is initially a liver disease, can turn into a multi-systemic …

WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease

M Kumar, U Gaharwar, S Paul, M Poojary… - Scientific reports, 2020 - nature.com
Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global
carrier frequency of 1 in 90 and a prevalence of 1 in 30,000. The disease owes its genesis to …

Wilson disease mutation pattern with genotype‐phenotype correlations from Western India: confirmation of p. C271* as a common Indian mutation and identification of …

A Aggarwal, G Chandhok, T Todorov… - Annals of human …, 2013 - Wiley Online Library
Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the
ATP7B gene, with over 600 mutations described. Identification of mutations has made …

Update on Wilson disease

A Aggarwal, M Bhatt - International Review of Neurobiology, 2013 - Elsevier
Wilson disease (WD) is an inherited disorder of chronic copper toxicosis characterized by
excessive copper deposition in the body, primarily in the liver and the brain. It is a …

Genetic movement disorders commonly seen in Asians

P Jagota, SY Lim, PK Pal, JY Lee… - Movement Disorders …, 2023 - Wiley Online Library
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 …

Cognitive profile and structural findings in Wilson's disease: A neuropsychological and MRI-based study

S Hegde, S Sinha, SL Rao, AB Taly… - Neurology India, 2010 - journals.lww.com
Background: Systematic studies on neuropsychological profile in patients with Wilson's
disease (WD) are far and few. Aim: To examine the profile of cognitive deficits and their …

[HTML][HTML] Challenges and dilemmas in pediatric hepatic Wilson's disease

U Ghosh, MS Sarma, A Samanta - World Journal of Hepatology, 2023 - ncbi.nlm.nih.gov
Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on
chromosome 13q. This leads to copper deposition in various organs, most importantly in the …

Wilson's disease update: an Indian perspective

N Kumar, LK Prashant, V Goyal - Annals of Indian Academy of …, 2021 - journals.lww.com
Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation,
resulting in defective copper metabolism, with the liver and brain being primarily affected …