Publications by authors named "Sophie Bouchard"
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Eduardo Couchonnal
,
Sophie Bouchard
,
Thomas Damgaard Sandahl
,
Cecile Pagan
,
Laurence Lion-François
Eur J Med Genet
October 2021
Background/aim: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population.
Methods: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics.