Pitfalls in the Diagnosis of Wilson Disease - Roy, Debasish; Mukherjee, Angshuman; Chakravarty, Ambar (Current neurology and neuroscience reports, 2025)
Keywords: Adenosine Triphosphatases - genetics; Asymptomatic; ATP7B gene; Biopsy; Cation Transport Proteins - genetics; Ceruloplasmin; Chelating agents; Chromosome 13; Copper; Copper - metabolism; Copper-Transporting ATPases; Diagnosis; Exons; Genetic variability; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Hereditary diseases; Humans; Introns; Liver diseases; Liver transplantation; Medicine; Medicine & Public Health; Mental disorders; Mutation; Mutation - genetics; Neurology; Neurosciences; Patients; Phenotypes; Review; Topical Collection on Neurology of Systemic Disease; Wilson's disease; Ceruloplasmin; MRI in Wilson disease; Wilson disease; Neurological pitfalls; Serum copper; Genetics; Urinary copper excretion