Wilson disease
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that
is characterized by the pathological accumulation of copper. WD is caused by mutations in …
is characterized by the pathological accumulation of copper. WD is caused by mutations in …
Wilson's disease: an update on the diagnostic workup and management
B Kasztelan-Szczerbinska, H Cichoz-Lach - Journal of clinical medicine, 2021 - mdpi.com
Wilson's disease (WD) is a rare autosomal recessive disorder of hepatocellular copper
deposition. The diagnostic approach to patients with WD may be challenging and is based …
deposition. The diagnostic approach to patients with WD may be challenging and is based …
Wilson's disease: an update
SK Das, K Ray - Nature clinical practice Neurology, 2006 - nature.com
Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the
copper-transporting gene ATP7B. The disease has an autosomal recessive mode of …
copper-transporting gene ATP7B. The disease has an autosomal recessive mode of …
Atp7b −/− mice as a model for studies of Wilson's disease
S Lutsenko - Biochemical Society Transactions, 2008 - portlandpress.com
Wilson's disease is a severe human disorder of copper homoeostasis. The disease is
associated with various mutations in the ATP7B gene that encodes a copper-transporting …
associated with various mutations in the ATP7B gene that encodes a copper-transporting …
Insights into the management of Wilson's disease
M Kathawala, GM Hirschfield - Therapeutic Advances in …, 2017 - journals.sagepub.com
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in
which the causative gene, ATP7B, results in absent or reduced function of the ATP7B …
which the causative gene, ATP7B, results in absent or reduced function of the ATP7B …
Management perspective of Wilson's disease: early diagnosis and individualized therapy
XZ Yuan, RM Yang, XP Wang - Current Neuropharmacology, 2021 - ingentaconnect.com
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is
characterized by the pathological accumulation of copper in the liver and brain. Common …
characterized by the pathological accumulation of copper in the liver and brain. Common …
Wilson disease and related copper disorders
MT Lorincz - Handbook of Clinical Neurology, 2018 - Elsevier
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in
copper metabolism genes or abnormalities in copper metabolism result in disease from …
copper metabolism genes or abnormalities in copper metabolism result in disease from …
[HTML][HTML] Challenges in the diagnosis of Wilson disease
A Poujois, F Woimant - Annals of translational medicine, 2019 - ncbi.nlm.nih.gov
The understanding and management of Wilson disease (WD) have dramatically improved
since the first description of the disease by K. Wilson more than a century ago. However, the …
since the first description of the disease by K. Wilson more than a century ago. However, the …
Wilson disease
D Huster - Best practice & research Clinical gastroenterology, 2010 - Elsevier
Wilson disease is an inherited autosomal recessive disorder of copper balance leading to
hepatic damage and neurological disturbance of variable degree. The defective gene …
hepatic damage and neurological disturbance of variable degree. The defective gene …
Modifying factors and phenotypic diversity in Wilson's disease
S Lutsenko - Annals of the New York Academy of Sciences, 2014 - Wiley Online Library
Wilson's disease (WD) is a human disorder of copper homeostasis caused by mutations in
the copper‐transporting ATPase ATP7B. WD is characterized by copper accumulation …
the copper‐transporting ATPase ATP7B. WD is characterized by copper accumulation …