Wilson's disease: facing the challenge of diagnosing a rare disease

A Sánchez-Monteagudo, E Ripollés, M Berenguer… - Biomedicines, 2021 - mdpi.com
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the
defective biliary excretion of copper. The subsequent gradual accumulation of copper in …

Wilson's disease—Genetic puzzles with diagnostic implications

G Gromadzka, M Bendykowska, A Przybyłkowski - Diagnostics, 2023 - mdpi.com
(1) Introduction: Wilson's disease (WND) is an autosomal recessive disorder of copper
metabolism. The WND gene is ATP7B, located on chromosome 13. WND is characterized by …

[HTML][HTML] Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease

CJ Collins, F Yi, R Dayuha, P Duong, S Horslen… - Gastroenterology, 2021 - Elsevier
Background & Aims Both existing clinical criteria and genetic testing have significant
limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient …

Biochemical diagnosis of Wilson's Disease: an update

E Martínez-Morillo, JM Bauça - Advances in Laboratory Medicine …, 2022 - degruyter.com
Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in
the ATP7B gene. This condition is characterized by the accumulation of copper in the liver …

Challenges in molecular diagnosis of Wilson disease

JLV Reeve, IM Frayling, PJ Twomey - Journal of Clinical Pathology, 2020 - jcp.bmj.com
The study by Poon et al 1 outlines the issues associated with the use of current molecular
diagnostic methodologies to rule in or rule out a diagnosis of Wilson's disease (WD) or …

Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report

D Ma, JL Zhang, ZH Huang, G Ai, G Li, SN Shu - 2023 - researchsquare.com
Background Wilson disease (WD) is an autosomal-recessive metabolic disorder
characterized by excess copper accumulation predominantly in the liver, brain, and cornea …

[HTML][HTML] “Face of a Giant Panda” and “Beating Wings” in a Young Male

N Arora, K Wasti, V Suri, P Malhotra - Cureus, 2022 - ncbi.nlm.nih.gov
Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B)
cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological …

[HTML][HTML] A narrative review on COMMD1, the promiscuous ATP7B chaperone bridging the gap between inherited canine copper toxicosis and Wilson disease

LC Penning, FG van Steenbeek - Digestive Medicine Research, 2022 - dmr.amegroups.org
Methods: This English narrative on the comparison between Wilson disease and canine
hepatic copper toxicosis is based on data retrieved form peer-reviewed publications that …

Actualización en el diagnóstico bioquímico de la enfermedad de Wilson

E Martínez-Morillo, JM Bauça… - … in Laboratory Medicine …, 2022 - degruyter.com
La enfermedad de Wilson (EW) es un trastorno hereditario del metabolismo del cobre
causado por mutaciones en el gen ATP7B, en el que se produce la acumulación de este …

Genética molecular y biomarcadores de la enfermedad de Wilson

A Sánchez Monteagudo - 2023 - riunet.upv.es
[ES] La enfermedad de Wilson (EW) es un trastorno hereditario del metabolismo del cobre
causado por mutaciones en ATP7B, que codifica una proteína transportadora de cobre en el …