Relative exchangeable copper: A promising tool for family screening in Wilson disease

• Published in: Movement disorders Vol. 29; no. 4; pp. 558 - 562
• Main Authors: Trocello, Jean-Marc, El Balkhi, Souleiman, Woimant, France, Girardot-Tinant, Nadège, Chappuis, Philippe, Lloyd, Carla, Poupon, Joël
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.04.2014; Wiley Subscription Services, Inc
• Subjects: Adenosine Triphosphatases - genetics; Adolescent; Adult; ATP7B; Cation Transport Proteins - genetics; Child; Child, Preschool; Copper - blood; Copper-transporting ATPases; family screening; Female; Hepatolenticular Degeneration - blood; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Humans; Male; Middle Aged; Movement disorders; Mutation; relative exchangeable copper; Wilson disease; Young Adult; family screening; ATP7B; Wilson disease; relative exchangeable copper

ABSTRACT Background Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening. Methods Data from family screening were collected from the French National Center of Reference for Wilson dis...